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Gene: GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) Canis lupus familiaris

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Symbol:

GABBR2

Name:

gamma-aminobutyric acid type B receptor subunit 2

RGD ID:

12199151

Description:

ENCODES a protein that exhibits G protein-coupled GABA receptor activity (ortholog); INVOLVED IN gamma-aminobutyric acid signaling pathway (ortholog); neuron-glial cell signaling (ortholog); ASSOCIATED WITH alcohol dependence (ortholog); alcohol use disorder (ortholog); autism spectrum disorder (ortholog); FOUND IN GABA-ergic synapse (ortholog); glutamatergic synapse (ortholog); postsynaptic membrane (ortholog)

Type:

protein-coding

RefSeq Status:

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

CanFam3.1 - Dog CanFam3.1 Assembly

Position:

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	55,469,327 - 55,817,930 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	53,902,316 - 54,251,118 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	56,578,376 - 56,927,274 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	56,580,523 - 56,927,865 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	55,076,468 - 55,431,616 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	55,107,840 - 55,455,961 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	55,804,321 - 56,153,068 (-)	NCBI		UU_Cfam_GSD_1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	alcohol dependence		ISO	Gabbr2 (Rattus norvegicus)	9068941	mRNA:decreased expression:hippocampus (rat)	RGD	PMID:22253714 and REF_RGD_ID:401900163
GABBR2	Dog	alcohol use disorder	susceptibility	ISO	GABBR2 (Homo sapiens)	9068941	DNA:SNP:intron: (rs2900512) (human)	RGD	PMID:28118741 and REF_RGD_ID:401940105
GABBR2	Dog	nicotine dependence	susceptibility	ISO	GABBR2 (Homo sapiens)	9068941	DNA:SNPs and haplotypes:multiple	RGD	PMID:19763258 and REF_RGD_ID:401940104

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	autism spectrum disorder		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:25741868
GABBR2	Dog	congenital disorder of glycosylation Ii		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I	ClinVar	PMID:20813212 and PMID:28492532
GABBR2	Dog	congenital disorder of glycosylation type II		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: CDG Ii	ClinVar	PMID:20813212 and PMID:28492532
GABBR2	Dog	congenital myasthenic syndrome 14		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Myasthenic syndrome more ...	ClinVar	PMID:20813212 and PMID:28492532
GABBR2	Dog	developmental and epileptic encephalopathy 59		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 59	ClinVar	PMID:25262651 more ...
GABBR2	Dog	generalized epilepsy		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:16199547 more ...
GABBR2	Dog	genetic disease		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
GABBR2	Dog	intellectual disability		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
GABBR2	Dog	nephronophthisis		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Nephronophthisis	ClinVar	PMID:12872123 and PMID:28492532
GABBR2	Dog	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills	ClinVar	PMID:16199547 more ...
GABBR2	Dog	nicotine dependence		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Tobacco addiction and susceptibility to	ClinVar	PMID:25741868 and PMID:28492532
GABBR2	Dog	Rett syndrome		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Rett syndrome	ClinVar	PMID:25741868 more ...
GABBR2	Dog	thoracic aortic aneurysm		ISO	GABBR2 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection	ClinVar	PMID:20813212 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	autistic disorder		ISO	GABBR2 (Homo sapiens)	9068941	CTD Direct Evidence: marker/mechanism	CTD	PMID:19002745

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	developmental and epileptic encephalopathy 59		ISO	GABBR2 (Homo sapiens)	7240710		OMIM
GABBR2	Dog	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills		ISO	GABBR2 (Homo sapiens)	7240710		OMIM
GABBR2	Dog	nicotine dependence		ISO	GABBR2 (Homo sapiens)	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	involved_in	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	G protein-coupled receptor signaling pathway	involved_in	IEA	UniProtKB-KW:KW-0297	150520179		UniProt	GO_REF:0000043
GABBR2	Dog	G protein-coupled receptor signaling pathway	involved_in	IEA	InterPro:IPR000337 more ...	150520179		InterPro	GO_REF:0000002
GABBR2	Dog	gamma-aminobutyric acid signaling pathway		ISO	Gabbr2 (Rattus norvegicus)	9068941		RGD	PMID:11389174 and REF_RGD_ID:632824
GABBR2	Dog	gamma-aminobutyric acid signaling pathway	involved_in	IBA	FB:FBgn0027575 more ...	150520179		GO_Central	GO_REF:0000033
GABBR2	Dog	gamma-aminobutyric acid signaling pathway	involved_in	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	neuron-glial cell signaling	involved_in	ISO	UniProtKB:Q9Z0U4	9068941	PMID:10196584	ARUK-UCL	PMID:10196584 and REF_RGD_ID:14397583
GABBR2	Dog	signal transduction	involved_in	IEA	UniProtKB-KW:KW-0807	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	cytoplasm	located_in	IEA	UniProtKB:Q80T41 and ensembl:ENSMUSP00000103378	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	G protein-coupled GABA receptor complex	part_of	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	G protein-coupled receptor heterodimeric complex	part_of	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	G protein-coupled receptor heterodimeric complex	part_of	IBA	FB:FBgn0027575 more ...	150520179		GO_Central	GO_REF:0000033
GABBR2	Dog	GABA receptor complex	part_of	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	GABA-ergic synapse	is_active_in	ISO	Gabbr2 (Rattus norvegicus)	9068941	PMID:14657159	SynGO	PMID:14657159 and REF_RGD_ID:13702400
GABBR2	Dog	glutamatergic synapse	is_active_in	ISO	Gabbr2 (Rattus norvegicus)	9068941	PMID:14657159	SynGO	PMID:14657159 and REF_RGD_ID:13702400
GABBR2	Dog	membrane	located_in	IEA	InterPro:IPR000337 more ...	150520179		InterPro	GO_REF:0000002
GABBR2	Dog	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
GABBR2	Dog	neuron projection	located_in	IEA	UniProtKB:Q80T41 and ensembl:ENSMUSP00000103378	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
GABBR2	Dog	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
GABBR2	Dog	plasma membrane	located_in	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	postsynaptic membrane	is_active_in	ISO	Gabbr2 (Rattus norvegicus)	9068941	PMID:14657159	SynGO	PMID:14657159 and REF_RGD_ID:13702400
GABBR2	Dog	presynaptic membrane	is_active_in	ISO	Gabbr2 (Rattus norvegicus)	9068941	PMID:14657159	SynGO	PMID:14657159 and REF_RGD_ID:13702400

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABBR2	Dog	G protein-coupled GABA receptor activity		ISO	Gabbr2 (Rattus norvegicus)	9068941		RGD	PMID:11389174 and REF_RGD_ID:632824
GABBR2	Dog	G protein-coupled GABA receptor activity	enables	IBA	FB:FBgn0027575 more ...	150520179		GO_Central	GO_REF:0000033
GABBR2	Dog	G protein-coupled GABA receptor activity	enables	IEA	InterPro:IPR002455 and InterPro:IPR002457	150520179		InterPro	GO_REF:0000002
GABBR2	Dog	G protein-coupled GABA receptor activity	contributes_to	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107
GABBR2	Dog	G protein-coupled receptor activity	enables	IEA	UniProtKB-KW:KW-0297	150520179		UniProt	GO_REF:0000043
GABBR2	Dog	G protein-coupled receptor activity	enables	IEA	InterPro:IPR000337 more ...	150520179		InterPro	GO_REF:0000002
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:Q86UR5	9068941	PMID:37207277	IntAct	PMID:37207277
GABBR2	Dog	protein binding	enables	ISO	PR:Q06507	9068941	PMID:15013631	MGI	PMID:15013631
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:P46459 and UniProtKB:Q9UBS5	9068941	PMID:16724110	IntAct	PMID:16724110
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:Q9UBS5	9068941	PMID:24658140 and PMID:32555460	IntAct	PMID:24658140 and PMID:32555460
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:Q9Z0U4	9068941	PMID:19590495	IntAct	PMID:19590495 and REF_RGD_ID:8553550
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:Q9Z0U4	9068941	PMID:21063387	IntAct	PMID:21063387 and REF_RGD_ID:8553604
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:P27732	9068941	PMID:20627102	IntAct	PMID:20627102 and REF_RGD_ID:8554172
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:Q9Z0U4	9068941	PMID:21552208	IntAct	PMID:21552208 and REF_RGD_ID:8554334
GABBR2	Dog	protein binding	enables	ISO	UniProtKB:Q9UBS5-2	9068941	PMID:24305054 more ...	IntAct	PMID:24305054 more ...
GABBR2	Dog	protein heterodimerization activity	enables	IEA	UniProtKB:O75899 and ensembl:ENSP00000259455	150520179		Ensembl	GO_REF:0000107

PMID:22301074	PMID:30032202

GABBR2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	55,469,327 - 55,817,930 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	53,902,316 - 54,251,118 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	56,578,376 - 56,927,274 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	56,580,523 - 56,927,865 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	55,076,468 - 55,431,616 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	55,107,840 - 55,455,961 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	55,804,321 - 56,153,068 (-)	NCBI		UU_Cfam_GSD_1.0

GABBR2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	98,288,109 - 98,708,935 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	98,288,109 - 98,708,935 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	101,050,391 - 101,471,217 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	100,090,187 - 100,511,300 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	98,129,920 - 98,551,034	NCBI
Celera	9	71,564,671 - 71,985,374 (-)	NCBI		Celera
Cytogenetic Map	9	q22.33	NCBI
HuRef	9	70,650,446 - 70,940,183 (-)	NCBI		HuRef
CHM1_1	9	101,196,866 - 101,617,897 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	110,460,053 - 110,880,595 (-)	NCBI		T2T-CHM13v2.0

Gabbr2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	46,662,318 - 46,991,714 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	46,662,305 - 46,991,873 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	46,662,318 - 46,991,714 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	46,662,305 - 46,991,873 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	46,676,770 - 47,004,586 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	46,684,998 - 47,012,814 (-)	NCBI		MGSCv36	mm8
Celera	4	46,675,526 - 47,003,236 (-)	NCBI		Celera
Cytogenetic Map	4	B1	NCBI
cM Map	4	25.18	NCBI

Gabbr2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	65,743,073 - 66,083,695 (-)	NCBI		GRCr8
mRatBN7.2	5	60,947,517 - 61,288,104 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	60,947,526 - 61,288,104 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	62,918,639 - 63,259,788 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	64,738,005 - 65,079,085 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	64,707,402 - 65,048,578 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	62,276,100 - 62,621,737 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	62,276,100 - 62,621,737 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	66,802,348 - 67,142,203 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	63,241,397 - 63,611,907 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	63,241,575 - 63,612,086 (-)	NCBI
Celera	5	59,508,888 - 59,731,378 (-)	NCBI		Celera
Cytogenetic Map	5	q22	NCBI

Gabbr2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955419	26,872,728 - 27,239,464 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955419	26,872,734 - 27,241,917 (+)	NCBI	ChiLan1.0	ChiLan1.0

GABBR2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	11	40,747,751 - 41,170,503 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	40,750,129 - 41,172,879 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	69,377,091 - 69,799,867 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	97,500,606 - 97,919,053 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	97,500,904 - 97,790,605 (-)	Ensembl	panpan1.1		panPan2

Gabbr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	170,397,327 - 170,750,253 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936524	6,943,147 - 7,297,835 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936524	6,944,923 - 7,297,833 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GABBR2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	240,107,466 - 240,496,101 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	240,107,469 - 240,495,917 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	268,546,934 - 268,740,787 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GABBR2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	40,719,126 - 41,135,602 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	40,719,577 - 41,135,770 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	37,753,365 - 38,173,474 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gabbr2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624825	2,233,759 - 2,610,255 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624825	2,233,759 - 2,608,159 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GABBR2
4430 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000546849]\|not provided [RCV003480691]	Chr5:141573751 [GRCh38] Chr5:140953318 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000549611]	Chr5:141528717 [GRCh38] Chr5:140908284 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000554102]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157174]\|not provided [RCV001562152]\|not specified [RCV001195316]	Chr5:141573865 [GRCh38] Chr5:140953432 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.118-9G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000547762]	Chr5:141588259 [GRCh38] Chr5:140967826 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000526185]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001420579]	Chr5:141577486 [GRCh38] Chr5:140957053 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000524722]\|not provided [RCV001548203]\|not specified [RCV001195574]	Chr5:141574191 [GRCh38] Chr5:140953758 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000548020]	Chr5:141516969 [GRCh38] Chr5:140896536 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3574+6G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001043216]\|not specified [RCV000602632]	Chr5:141526032 [GRCh38] Chr5:140905599 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000546409]	Chr5:141528843 [GRCh38] Chr5:140908410 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652763]\|Inborn genetic diseases [RCV002525173]\|not provided [RCV001722443]\|not specified [RCV000519502]	Chr5:141573692 [GRCh38] Chr5:140953259 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2778+10G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000531091]	Chr5:141529162 [GRCh38] Chr5:140908729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.4(DIAPH1):c.3439-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000548821]\|not specified [RCV000825326]	Chr5:141526176 [GRCh38] Chr5:140905743 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000542384]\|DIAPH1-related disorder [RCV003962604]\|not provided [RCV003736815]	Chr5:141516995 [GRCh38] Chr5:140896562 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000290333]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001515786]\|not provided [RCV001636625]\|not specified [RCV000038367]	Chr5:141618784 [GRCh38] Chr5:140998351 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1397-14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002054697]\|not specified [RCV000038368]	Chr5:141576308 [GRCh38] Chr5:140955875 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000898577]\|not provided [RCV004704827]\|not specified [RCV000038369]	Chr5:141528505 [GRCh38] Chr5:140908072 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000328272]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000527069]\|not provided [RCV000991922]\|not specified [RCV000038370]	Chr5:141524225 [GRCh38] Chr5:140903792 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001087303]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155599]\|not provided [RCV000827061]\|not specified [RCV000038371]	Chr5:141580881 [GRCh38] Chr5:140960448 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
NM_005219.5(DIAPH1):c.3661+1G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000007963]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001851727]	Chr5:141524142 [GRCh38] Chr5:140903709 [GRCh37] Chr5:5q31.3	pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	copy number loss	See cases [RCV000052142]	Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001051173]	Chr5:141529682 [GRCh38] Chr5:140909249 [GRCh37] Chr5:140889433 [NCBI36] Chr5:5q31.3	uncertain significance\|not provided
NM_005219.4(DIAPH1):c.1853_1854insTCC (p.Pro620_Leu621insPro)	insertion	not specified [RCV000175060]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000488304]	Chr5:141524179..141524180 [GRCh38] Chr5:140903746..140903747 [GRCh37] Chr5:5q31.3	pathogenic
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	copy number loss	See cases [RCV000136949]	Chr5:140963199..142322798 [GRCh38] Chr5:140453735..141702363 [GRCh37] Chr5:140322968..141682547 [NCBI36] Chr5:5q31.3	uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	copy number gain	See cases [RCV000138808]	Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	copy number gain	See cases [RCV000139504]	Chr5:141089988..149530678 [GRCh38] Chr5:140469572..148910241 [GRCh37] Chr5:140449756..148890434 [NCBI36] Chr5:5q31.3-32	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3	copy number gain	See cases [RCV000142806]	Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3	uncertain significance
NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209492]\|not specified [RCV000155769]	Chr5:141534391 [GRCh38] Chr5:140913958 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001506631]\|not provided [RCV004597753]\|not specified [RCV000155937]	Chr5:141526375 [GRCh38] Chr5:140905942 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000939046]\|DIAPH1-related disorder [RCV004752755]\|not specified [RCV000150401]	Chr5:141528547 [GRCh38] Chr5:140908114 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000269313]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003764908]\|not specified [RCV000150402]	Chr5:141529607 [GRCh38] Chr5:140909174 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000365633]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002055960]\|DIAPH1-related disorder [RCV003895035]\|not specified [RCV000150404]	Chr5:141575085 [GRCh38] Chr5:140954652 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance\|not provided
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003764909]\|not specified [RCV000150406]	Chr5:141580785 [GRCh38] Chr5:140960352 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-7T>C	single nucleotide variant	not specified [RCV000150407]	Chr5:141582382 [GRCh38] Chr5:140961949 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+12del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001518563]\|Nonsyndromic Hearing Loss, Mixed [RCV000279906]\|not provided [RCV003430713]\|not specified [RCV000150408]	Chr5:141584112 [GRCh38] Chr5:140963679 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003764910]\|not specified [RCV000150410]	Chr5:141588240 [GRCh38] Chr5:140967807 [GRCh37] Chr5:5q31.3	uncertain significance\|not provided
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154656]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001393091]\|not specified [RCV000156180]	Chr5:141528502 [GRCh38] Chr5:140908069 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3662-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002056116]\|not specified [RCV000156188]	Chr5:141517022 [GRCh38] Chr5:140896589 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003764970]\|not specified [RCV000156386]	Chr5:141582361 [GRCh38] Chr5:140961928 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000802483]\|not provided [RCV000726655]\|not specified [RCV000150400]	Chr5:141527616 [GRCh38] Chr5:140907183 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000333747]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000557145]\|not provided [RCV001753531]\|not specified [RCV000150403]	Chr5:141534391 [GRCh38] Chr5:140913958 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652771]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV004584612]\|DIAPH1-related disorder [RCV003398797]\|not specified [RCV000150405]	Chr5:141576788 [GRCh38] Chr5:140956355 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000316277]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000541586]\|not provided [RCV000991924]\|not specified [RCV000150409]	Chr5:141584136 [GRCh38] Chr5:140963703 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000694570]\|Inborn genetic diseases [RCV002516119]\|not provided [RCV002464130]\|not specified [RCV000155084]	Chr5:141528551 [GRCh38] Chr5:140908118 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001850124]\|not specified [RCV000155085]	Chr5:141528796 [GRCh38] Chr5:140908363 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000530079]\|DIAPH1-related disorder [RCV003937461]\|not provided [RCV001698660]\|not specified [RCV000155358]	Chr5:141579130 [GRCh38] Chr5:140958697 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000273144]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000526286]\|not specified [RCV000155359]	Chr5:141516905 [GRCh38] Chr5:140896472 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003984821]\|Epilepsy [RCV000162177]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201793]	Chr5:141573518 [GRCh38] Chr5:140953085 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000380141]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001855165]\|Inborn genetic diseases [RCV002519210]\|not provided [RCV000319218]	Chr5:141584183 [GRCh38] Chr5:140963750 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.685-5A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652779]\|not provided [RCV001722166]\|not specified [RCV000219566]	Chr5:141580888 [GRCh38] Chr5:140960455 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000600201]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001522464]\|not provided [RCV001538893]\|not specified [RCV000223617]	Chr5:141573997..141573999 [GRCh38] Chr5:140953564..140953566 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003765365]\|not specified [RCV000215354]	Chr5:141572026 [GRCh38] Chr5:140951593 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003765364]\|not specified [RCV000217370]	Chr5:141573783 [GRCh38] Chr5:140953350 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000398170]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001086322]\|DIAPH1-related disorder [RCV003907804]\|not provided [RCV000725896]\|not specified [RCV000214076]	Chr5:141574081 [GRCh38] Chr5:140953648 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001409920]\|not provided [RCV000534862]\|not specified [RCV000218309]	Chr5:141528831 [GRCh38] Chr5:140908398 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000488049]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002519628]\|Rare genetic deafness [RCV000216048]\|not provided [RCV000733671]	Chr5:141524167 [GRCh38] Chr5:140903734 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001853443]\|not specified [RCV000221090]	Chr5:141516966 [GRCh38] Chr5:140896533 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003765388]\|not specified [RCV000222991]	Chr5:141526086 [GRCh38] Chr5:140905653 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000543790]\|not provided [RCV000514338]\|not specified [RCV000216693]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000382860]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000560299]\|not provided [RCV001722143]\|not specified [RCV000219055]	Chr5:141527619 [GRCh38] Chr5:140907186 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000806173]\|Inborn genetic diseases [RCV002517539]\|not provided [RCV001723797]\|not specified [RCV000219307]	Chr5:141573743 [GRCh38] Chr5:140953310 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2358+15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001400142]\|not specified [RCV000221668]	Chr5:141573477 [GRCh38] Chr5:140953044 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000307634]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000540475]\|not provided [RCV001683161]\|not specified [RCV000280471]	Chr5:141576284 [GRCh38] Chr5:140955851 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)	single nucleotide variant	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000625785]	Chr5:141582369 [GRCh38] Chr5:140961936 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005219.5(DIAPH1):c.*1041G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000284447]	Chr5:141515810 [GRCh38] Chr5:140895377 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.301-5C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000285720]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001404213]\|DIAPH1-related disorder [RCV003970020]\|Inborn genetic diseases [RCV002520328]	Chr5:141584230 [GRCh38] Chr5:140963797 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000281485]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652776]\|DIAPH1-related disorder [RCV003970019]\|Inborn genetic diseases [RCV002520326]\|not provided [RCV001613157]	Chr5:141573818 [GRCh38] Chr5:140953385 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000271037]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001081233]\|not provided [RCV000437504]\|not specified [RCV000612807]	Chr5:141576268 [GRCh38] Chr5:140955835 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
NM_005219.5(DIAPH1):c.1461+20G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001517682]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001660272]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001660273]\|not provided [RCV001668510]\|not specified [RCV000247529]	Chr5:141576210 [GRCh38] Chr5:140955777 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000277146]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002058511]	Chr5:141578281 [GRCh38] Chr5:140957848 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.124_126del	deletion	Nonsyndromic Hearing Loss, Mixed [RCV000267697]	Chr5:141516725..141516727 [GRCh38] Chr5:140896292..140896294 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+8C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000374126]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002523510]	Chr5:141583198 [GRCh38] Chr5:140962765 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1607C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000314582]	Chr5:141515244 [GRCh38] Chr5:140894811 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.-28G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000314756]	Chr5:141618942 [GRCh38] Chr5:140998509 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*217C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000353039]\|not provided [RCV004707127]	Chr5:141516634 [GRCh38] Chr5:140896201 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000375883]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652769]\|Inborn genetic diseases [RCV003372691]	Chr5:141573688 [GRCh38] Chr5:140953255 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000398178]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652768]	Chr5:141573886 [GRCh38] Chr5:140953453 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1557C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000400731]	Chr5:141515294 [GRCh38] Chr5:140894861 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000301637]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001861250]	Chr5:141574106 [GRCh38] Chr5:140953673 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000336345]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061256]	Chr5:141573839 [GRCh38] Chr5:140953406 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*1304A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000378904]	Chr5:141515547 [GRCh38] Chr5:140895114 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*367C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000337792]\|not provided [RCV003430898]	Chr5:141516484 [GRCh38] Chr5:140896051 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1703AG[6]	microsatellite	Nonsyndromic Hearing Loss, Mixed [RCV000402540]	Chr5:141515133..141515136 [GRCh38] Chr5:140894700..140894703 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000403149]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV000966695]\|DIAPH1-related disorder [RCV003957817]\|not provided [RCV001683397]\|not specified [RCV000825747]	Chr5:141587142 [GRCh38] Chr5:140966709 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*39G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000303626]	Chr5:141516812 [GRCh38] Chr5:140896379 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000319451]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001498389]\|DIAPH1-related disorder [RCV003897794]\|not provided [RCV003430899]	Chr5:141582369 [GRCh38] Chr5:140961936 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000358374]\|not provided [RCV004705378]	Chr5:141516835 [GRCh38] Chr5:140896402 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*734C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000381084]	Chr5:141516117 [GRCh38] Chr5:140895684 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*933T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000290126]	Chr5:141515918 [GRCh38] Chr5:140895485 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.300+12A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000339439]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061258]	Chr5:141587030 [GRCh38] Chr5:140966597 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1347C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000360293]	Chr5:141515504 [GRCh38] Chr5:140895071 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*1364T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000321874]	Chr5:141515487 [GRCh38] Chr5:140895054 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*1597G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000362325]	Chr5:141515254 [GRCh38] Chr5:140894821 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000555012]\|Nonsyndromic Hearing Loss, Mixed [RCV000342257]\|not provided [RCV001653685]\|not specified [RCV000607182]	Chr5:141573997..141574002 [GRCh38] Chr5:140953564..140953569 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002520327]\|Nonsyndromic Hearing Loss, Mixed [RCV000362370]	Chr5:141576865 [GRCh38] Chr5:140956432 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000386769]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061257]	Chr5:141579139 [GRCh38] Chr5:140958706 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1322C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000324347]	Chr5:141515529 [GRCh38] Chr5:140895096 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*755T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000345075]	Chr5:141516096 [GRCh38] Chr5:140895663 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.-22G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000345272]\|DIAPH1-related disorder [RCV003950245]\|not specified [RCV000600203]	Chr5:141618936 [GRCh38] Chr5:140998503 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000388207]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001219655]\|Inborn genetic diseases [RCV002520325]\|not specified [RCV000602949]	Chr5:141573517 [GRCh38] Chr5:140953084 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000294388]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001861249]\|not provided [RCV001778935]	Chr5:141573577 [GRCh38] Chr5:140953144 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*709C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000296058]	Chr5:141516142 [GRCh38] Chr5:140895709 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.-49A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000369495]\|not provided [RCV001558563]	Chr5:141618963 [GRCh38] Chr5:140998530 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*618G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000393373]	Chr5:141516233 [GRCh38] Chr5:140895800 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.*254G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000393384]	Chr5:141516597 [GRCh38] Chr5:140896164 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000349361]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001051616]\|not provided [RCV005222902]\|not specified [RCV000607967]	Chr5:141573650 [GRCh38] Chr5:140953217 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1637G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000349699]	Chr5:141515214 [GRCh38] Chr5:140894781 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*236T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000298265]	Chr5:141516615 [GRCh38] Chr5:140896182 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-27G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000396294]	Chr5:141618941 [GRCh38] Chr5:140998508 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1622TCC[1]	microsatellite	Nonsyndromic Hearing Loss, Mixed [RCV000396367]	Chr5:141515224..141515226 [GRCh38] Chr5:140894791..140894793 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*1337C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000259835]	Chr5:141515514 [GRCh38] Chr5:140895081 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001859700]\|not provided [RCV000307219]	Chr5:141574081 [GRCh38] Chr5:140953648 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.4(DIAPH1):c.1853_1854insTCCTCC (p.Pro620_Leu621insProPro)	insertion	not provided [RCV000421714]\|not specified [RCV000279070]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000273675]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003766026]	Chr5:141580779 [GRCh38] Chr5:140960346 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1765_1766dup	duplication	Nonsyndromic Hearing Loss, Mixed [RCV000336785]\|not provided [RCV003430897]	Chr5:141515084..141515085 [GRCh38] Chr5:140894651..140894652 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001317659]\|Inborn genetic diseases [RCV004021227]\|not provided [RCV000353082]	Chr5:141528818 [GRCh38] Chr5:140908385 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.*1395C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000264331]	Chr5:141515456 [GRCh38] Chr5:140895023 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*932dup	duplication	Nonsyndromic Hearing Loss, Mixed [RCV000384603]\|not provided [RCV004695835]	Chr5:141515918..141515919 [GRCh38] Chr5:140895485..140895486 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002518829]\|not provided [RCV000358511]	Chr5:141574142 [GRCh38] Chr5:140953709 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002518150]\|not provided [RCV000395602]	Chr5:141576865 [GRCh38] Chr5:140956432 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001338436]\|Inborn genetic diseases [RCV002521950]\|not provided [RCV000361855]	Chr5:141574066 [GRCh38] Chr5:140953633 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003336517]\|not provided [RCV002283119]	Chr5:141574115 [GRCh38] Chr5:140953682 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-87G>A	single nucleotide variant	not provided [RCV001547314]	Chr5:141534520 [GRCh38] Chr5:140914087 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*1654C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000292152]	Chr5:141515197 [GRCh38] Chr5:140894764 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.934-3T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000332129]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV005222903]	Chr5:141578628 [GRCh38] Chr5:140958195 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000306053]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001322038]	Chr5:141573907 [GRCh38] Chr5:140953474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1444T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000365974]	Chr5:141515407 [GRCh38] Chr5:140894974 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*701T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000350737]	Chr5:141516150 [GRCh38] Chr5:140895717 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003767321]\|Hearing impairment [RCV001375058]\|not provided [RCV000584874]	Chr5:141527577..141527578 [GRCh38] Chr5:140907144..140907145 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005219.5(DIAPH1):c.*1006T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000320699]	Chr5:141515845 [GRCh38] Chr5:140895412 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1544A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000308880]	Chr5:141515307 [GRCh38] Chr5:140894874 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*533G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000310961]	Chr5:141516318 [GRCh38] Chr5:140895885 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-85A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000311003]	Chr5:141618999 [GRCh38] Chr5:140998566 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-82G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000396302]	Chr5:141618996 [GRCh38] Chr5:140998563 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.682A>G (p.Lys228Glu)	single nucleotide variant	Inborn genetic diseases [RCV000624740]	Chr5:141582314 [GRCh38] Chr5:140961881 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151712]	Chr5:141574184 [GRCh38] Chr5:140953751 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs)	duplication	not provided [RCV000598609]	Chr5:141528813..141528814 [GRCh38] Chr5:140908380..140908381 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000531978]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV004722916]	Chr5:141573841 [GRCh38] Chr5:140953408 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000806367]	Chr5:141574097 [GRCh38] Chr5:140953664 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-25C>T	single nucleotide variant	not provided [RCV001546071]	Chr5:141571461 [GRCh38] Chr5:140951028 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000820393]\|not provided [RCV004760759]\|not specified [RCV000728424]	Chr5:141573997..141574005 [GRCh38] Chr5:140953564..140953572 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000735749]	Chr5:141573768 [GRCh38] Chr5:140953335 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3432G>A (p.Met1144Ile)	single nucleotide variant	not provided [RCV000731534]	Chr5:141526303 [GRCh38] Chr5:140905870 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002032867]\|Inborn genetic diseases [RCV004980644]\|not provided [RCV001760525]	Chr5:141584174 [GRCh38] Chr5:140963741 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000697895]	Chr5:141527689 [GRCh38] Chr5:140907256 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter)	single nucleotide variant	not provided [RCV000432418]	Chr5:141528926 [GRCh38] Chr5:140908493 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs)	indel	not provided [RCV000481192]	Chr5:141573878..141573879 [GRCh38] Chr5:140953445..140953446 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.644A>G (p.His215Arg)	single nucleotide variant	not provided [RCV000757154]	Chr5:141582352 [GRCh38] Chr5:140961919 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3614C>T (p.Ala1205Val)	single nucleotide variant	not provided [RCV000485261]	Chr5:141524190 [GRCh38] Chr5:140903757 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002056844]\|DIAPH1-related disorder [RCV003932825]\|not specified [RCV000503269]	Chr5:141528553 [GRCh38] Chr5:140908120 [GRCh37] Chr5:5q31.3	likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005219.5(DIAPH1):c.655C>T (p.Arg219Cys)	single nucleotide variant	not provided [RCV003318121]	Chr5:141582341 [GRCh38] Chr5:140961908 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001854140]\|not specified [RCV000609758]	Chr5:141580754 [GRCh38] Chr5:140960321 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002498908]\|not provided [RCV001722631]	Chr5:141527700 [GRCh38] Chr5:140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000808089]\|Inborn genetic diseases [RCV003243213]\|not provided [RCV002260651]\|not specified [RCV000613351]	Chr5:141528550 [GRCh38] Chr5:140908117 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002065197]\|not specified [RCV000611043]	Chr5:141577601 [GRCh38] Chr5:140957168 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002062152]\|not specified [RCV000611055]	Chr5:141534378 [GRCh38] Chr5:140913945 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=)	single nucleotide variant	not specified [RCV000613969]	Chr5:141578341 [GRCh38] Chr5:140957908 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652761]	Chr5:141526329 [GRCh38] Chr5:140905896 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652762]	Chr5:141516859 [GRCh38] Chr5:140896426 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652764]\|DIAPH1-related disorder [RCV003918078]\|Inborn genetic diseases [RCV004972828]\|not provided [RCV002285390]	Chr5:141574102 [GRCh38] Chr5:140953669 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652767]\|Inborn genetic diseases [RCV004972829]\|not provided [RCV003229853]	Chr5:141516861 [GRCh38] Chr5:140896428 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652770]\|DIAPH1-related disorder [RCV003918079]\|Inborn genetic diseases [RCV004025885]\|not provided [RCV004692047]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652772]	Chr5:141516943 [GRCh38] Chr5:140896510 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652773]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001333372]	Chr5:141529677 [GRCh38] Chr5:140909244 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652774]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155495]\|DIAPH1-related disorder [RCV004752983]\|not provided [RCV001592824]\|not specified [RCV000825744]	Chr5:141573626 [GRCh38] Chr5:140953193 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652775]	Chr5:141578557 [GRCh38] Chr5:140958124 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652777]	Chr5:141574197 [GRCh38] Chr5:140953764 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652778]	Chr5:141571972 [GRCh38] Chr5:140951539 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652780]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157175]\|DIAPH1-related disorder [RCV003918080]\|not provided [RCV001644734]	Chr5:141573886 [GRCh38] Chr5:140953453 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652782]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155595]\|not provided [RCV001545484]	Chr5:141578590 [GRCh38] Chr5:140958157 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652783]\|DIAPH1-related disorder [RCV004752984]\|not provided [RCV001556136]	Chr5:141573997..141574008 [GRCh38] Chr5:140953564..140953575 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652784]	Chr5:141573845 [GRCh38] Chr5:140953412 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652785]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157272]\|not provided [RCV003432708]	Chr5:141583247 [GRCh38] Chr5:140962814 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652786]	Chr5:141573924 [GRCh38] Chr5:140953491 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652765]\|not specified [RCV001269256]	Chr5:141528504 [GRCh38] Chr5:140908071 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3	copy number gain	See cases [RCV000512526]	Chr5:140676272..140929172 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000652766]\|Beta-D-mannosidosis [RCV001375335]\|not provided [RCV000512994]	Chr5:141526422 [GRCh38] Chr5:140905989 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790861]	Chr5:141516920 [GRCh38] Chr5:140896487 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000662222]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000662223]	Chr5:141573743 [GRCh38] Chr5:140953310 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	copy number loss	not provided [RCV000682600]	Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3	pathogenic
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000697821]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001151822]\|Inborn genetic diseases [RCV002533501]\|not provided [RCV001536492]	Chr5:141587125 [GRCh38] Chr5:140966692 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000699939]	Chr5:141571975 [GRCh38] Chr5:140951542 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000707166]\|not specified [RCV000825746]	Chr5:141529178 [GRCh38] Chr5:140908745 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1280+3A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000707625]	Chr5:141577472 [GRCh38] Chr5:140957039 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000688907]	Chr5:141580844 [GRCh38] Chr5:140960411 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000689036]\|Inborn genetic diseases [RCV002544839]\|not provided [RCV001653979]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000686307]	Chr5:141573988..141574002 [GRCh38] Chr5:140953555..140953569 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000701741]\|not specified [RCV004017721]	Chr5:141527671 [GRCh38] Chr5:140907238 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000690145]\|not provided [RCV001771946]	Chr5:141587083 [GRCh38] Chr5:140966650 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000693323]	Chr5:141573496 [GRCh38] Chr5:140953063 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000695410]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001154657]\|DIAPH1-related disorder [RCV003945718]	Chr5:141528920 [GRCh38] Chr5:140908487 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000696551]\|Inborn genetic diseases [RCV004026381]\|not provided [RCV003144534]	Chr5:141529611 [GRCh38] Chr5:140909178 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000705891]	Chr5:141574969 [GRCh38] Chr5:140954536 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-30A>G	single nucleotide variant	not provided [RCV001546451]	Chr5:141534463 [GRCh38] Chr5:140914030 [GRCh37] Chr5:5q31.3	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005219.5(DIAPH1):c.3149-1G>T	single nucleotide variant	not provided [RCV001571585]	Chr5:141527698 [GRCh38] Chr5:140907265 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001467196]	Chr5:141516980 [GRCh38] Chr5:140896547 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+291A>G	single nucleotide variant	not provided [RCV001583619]	Chr5:141525747 [GRCh38] Chr5:140905314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+176C>T	single nucleotide variant	not provided [RCV001576662]	Chr5:141583030 [GRCh38] Chr5:140962597 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*5G>T	single nucleotide variant	not provided [RCV001544864]	Chr5:141516846 [GRCh38] Chr5:140896413 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+169A>G	single nucleotide variant	not provided [RCV001551222]	Chr5:141583037 [GRCh38] Chr5:140962604 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+178T>C	single nucleotide variant	not provided [RCV001570446]	Chr5:141528275 [GRCh38] Chr5:140907842 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+48G>C	single nucleotide variant	not provided [RCV001552010]	Chr5:141583158 [GRCh38] Chr5:140962725 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+44A>G	single nucleotide variant	not provided [RCV001566931]	Chr5:141583162 [GRCh38] Chr5:140962729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-23dup	duplication	not provided [RCV001552126]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000950331]\|not provided [RCV001551211]	Chr5:141526149 [GRCh38] Chr5:140905716 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001431973]	Chr5:141528475 [GRCh38] Chr5:140908042 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-14CTT[2]	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV000951183]\|not provided [RCV001785747]	Chr5:141576300..141576302 [GRCh38] Chr5:140955867..140955869 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.810G>A (p.Pro270=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000964686]	Chr5:141580758 [GRCh38] Chr5:140960325 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+9C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001455539]	Chr5:141571917 [GRCh38] Chr5:140951484 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.99C>T (p.Gly33=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002539328]\|not provided [RCV004777910]	Chr5:141618816 [GRCh38] Chr5:140998383 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000924437]	Chr5:141573771 [GRCh38] Chr5:140953338 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001054865]\|Inborn genetic diseases [RCV003160438]\|not provided [RCV005232087]\|not specified [RCV005236569]	Chr5:141573820 [GRCh38] Chr5:140953387 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001059284]\|not provided [RCV001797152]	Chr5:141575007 [GRCh38] Chr5:140954574 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001046910]\|DIAPH1-related disorder [RCV003906157]\|DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome [RCV003325988]\|not provided [RCV001569639]	Chr5:141573887 [GRCh38] Chr5:140953454 [GRCh37] Chr5:5q31.3	uncertain significance\|not provided
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001037667]\|Inborn genetic diseases [RCV002551392]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001057389]	Chr5:141618827 [GRCh38] Chr5:140998394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001060023]	Chr5:141526443 [GRCh38] Chr5:140906010 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001050441]	Chr5:141578315 [GRCh38] Chr5:140957882 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2307del (p.Lys771fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV000779464]	Chr5:141573543 [GRCh38] Chr5:140953110 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213408]\|not specified [RCV000825745]	Chr5:141527609 [GRCh38] Chr5:140907176 [GRCh37] Chr5:5q31.3	likely benign
GRCh37/hg19 5q31.3(chr5:140953993-140992629)	copy number loss	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000767834]	Chr5:140953993..140992629 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3149-25_3149-12dup	duplication	DIAPH1-related disorder [RCV003960589]\|not provided [RCV000946883]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-14dup	duplication	not provided [RCV000950136]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000928240]	Chr5:141574137 [GRCh38] Chr5:140953704 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3439-5C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001492634]	Chr5:141526178 [GRCh38] Chr5:140905745 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000920506]\|not provided [RCV003432915]	Chr5:141583565 [GRCh38] Chr5:140963132 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs)	duplication	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000984508]	Chr5:141618837..141618838 [GRCh38] Chr5:140998404..140998405 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3019-8T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000941254]	Chr5:141528590 [GRCh38] Chr5:140908157 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000802548]	Chr5:141572034 [GRCh38] Chr5:140951601 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002536134]\|not provided [RCV000841414]	Chr5:141528574 [GRCh38] Chr5:140908141 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000809726]	Chr5:141572034 [GRCh38] Chr5:140951601 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000817713]	Chr5:141583270 [GRCh38] Chr5:140962837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002067419]\|not provided [RCV001595044]\|not specified [RCV000825748]	Chr5:141573996 [GRCh38] Chr5:140953563 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000807772]	Chr5:141528879 [GRCh38] Chr5:140908446 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1164-35AT[3]	microsatellite	not provided [RCV000842750]\|not specified [RCV003489937]	Chr5:141577622..141577623 [GRCh38] Chr5:140957189..140957190 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000800292]	Chr5:141526417 [GRCh38] Chr5:140905984 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000812247]	Chr5:141516903 [GRCh38] Chr5:140896470 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000802255]	Chr5:141575043 [GRCh38] Chr5:140954610 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp)	single nucleotide variant	not provided [RCV000991923]	Chr5:141524214 [GRCh38] Chr5:140903781 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000799138]\|not provided [RCV004773156]	Chr5:141576282 [GRCh38] Chr5:140955849 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000806357]	Chr5:141587108 [GRCh38] Chr5:140966675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1460A>G (p.Lys487Arg)	single nucleotide variant	not specified [RCV000825325]	Chr5:141576231 [GRCh38] Chr5:140955798 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000791750]	Chr5:141618871 [GRCh38] Chr5:140998438 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000824306]	Chr5:141573713 [GRCh38] Chr5:140953280 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV000824349]\|not provided [RCV001546501]	Chr5:141573989..141573990 [GRCh38] Chr5:140953556..140953557 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000824535]\|Inborn genetic diseases [RCV002536027]	Chr5:141573991 [GRCh38] Chr5:140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000809869]\|Inborn genetic diseases [RCV003362965]\|not provided [RCV003223678]	Chr5:141529192 [GRCh38] Chr5:140908759 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001067269]	Chr5:141578618 [GRCh38] Chr5:140958185 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3575-50_3661+36inv	inversion	Macrothrombocytopenia [RCV000852260]	Chr5:141524107..141524279 [GRCh38] Chr5:140903674..140903846 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000812521]	Chr5:141528776 [GRCh38] Chr5:140908343 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-24A>G	single nucleotide variant	not provided [RCV000843352]	Chr5:141517032 [GRCh38] Chr5:140896599 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+69C>T	single nucleotide variant	not provided [RCV000843645]	Chr5:141524074 [GRCh38] Chr5:140903641 [GRCh37] Chr5:5q31.3	likely benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001487199]	Chr5:141527651 [GRCh38] Chr5:140907218 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000803533]	Chr5:141575037 [GRCh38] Chr5:140954604 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000816864]\|DIAPH1-related disorder [RCV003955526]\|Inborn genetic diseases [RCV004973001]	Chr5:141573709 [GRCh38] Chr5:140953276 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000811590]	Chr5:141526413 [GRCh38] Chr5:140905980 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001082786]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001151711]\|DIAPH1-related disorder [RCV003917622]\|not provided [RCV000724127]\|not specified [RCV000221724]	Chr5:141574114 [GRCh38] Chr5:140953681 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005219.5(DIAPH1):c.2769del (p.Phe923fs)	deletion	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201796]	Chr5:141529181 [GRCh38] Chr5:140908748 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	single nucleotide variant	Deafness [RCV004798807]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201798]\|not provided [RCV000255778]	Chr5:141528456 [GRCh38] Chr5:140908023 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
NM_005219.5(DIAPH1):c.621-8A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001480447]	Chr5:141582383 [GRCh38] Chr5:140961950 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000556533]\|not specified [RCV000615816]	Chr5:141528834 [GRCh38] Chr5:140908401 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000534050]\|Inborn genetic diseases [RCV002526721]	Chr5:141526377 [GRCh38] Chr5:140905944 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001079161]\|not provided [RCV000421714]\|not specified [RCV000279070]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000701446]\|Inborn genetic diseases [RCV004026557]	Chr5:141526126 [GRCh38] Chr5:140905693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641+241C>G	single nucleotide variant	not provided [RCV001547580]	Chr5:141574726 [GRCh38] Chr5:140954293 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000937898]	Chr5:141573621 [GRCh38] Chr5:140953188 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001002757]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003768617]	Chr5:141573843 [GRCh38] Chr5:140953410 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001053189]\|Inborn genetic diseases [RCV004977935]	Chr5:141618850 [GRCh38] Chr5:140998417 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005219.5(DIAPH1):c.1155G>A (p.Met385Ile)	single nucleotide variant	not provided [RCV003239152]	Chr5:141578233 [GRCh38] Chr5:140957800 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000797971]	Chr5:141578237 [GRCh38] Chr5:140957804 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151823]	Chr5:141618873 [GRCh38] Chr5:140998440 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001068904]\|Inborn genetic diseases [RCV004609611]	Chr5:141516993 [GRCh38] Chr5:140896560 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	copy number gain	not provided [RCV000848228]	Chr5:140424333..148985999 [GRCh37] Chr5:5q31.3-32	uncertain significance
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001225973]	Chr5:141516991 [GRCh38] Chr5:140896558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001217050]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV003492231]	Chr5:141534375..141534376 [GRCh38] Chr5:140913942..140913943 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001044881]	Chr5:141573779 [GRCh38] Chr5:140953346 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001223974]\|Microcephaly [RCV001252708]\|not provided [RCV001772186]	Chr5:141576813 [GRCh38] Chr5:140956380 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000987607]	Chr5:141527689 [GRCh38] Chr5:140907256 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001218405]	Chr5:141618865 [GRCh38] Chr5:140998432 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+285C>T	single nucleotide variant	not provided [RCV001564078]	Chr5:141618513 [GRCh38] Chr5:140998080 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001238111]	Chr5:141618832 [GRCh38] Chr5:140998399 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001220260]	Chr5:141528902 [GRCh38] Chr5:140908469 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001241104]	Chr5:141516906 [GRCh38] Chr5:140896473 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001196585]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002560224]	Chr5:141524163 [GRCh38] Chr5:140903730 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001198779]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003770219]	Chr5:141529217 [GRCh38] Chr5:140908784 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001231214]	Chr5:141618886 [GRCh38] Chr5:140998453 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001237560]\|not provided [RCV003232259]	Chr5:141573990..141573991 [GRCh38] Chr5:140953557..140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001204663]	Chr5:141583210 [GRCh38] Chr5:140962777 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3077T>C (p.Leu1026Ser)	single nucleotide variant	Inborn genetic diseases [RCV003268850]	Chr5:141528524 [GRCh38] Chr5:140908091 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000987608]\|not provided [RCV001573184]	Chr5:141527694 [GRCh38] Chr5:140907261 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152953]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV005213472]	Chr5:141575110 [GRCh38] Chr5:140954677 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001238504]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001235055]\|Inborn genetic diseases [RCV002563819]\|not provided [RCV001751460]	Chr5:141580801 [GRCh38] Chr5:140960368 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157171]	Chr5:141573780 [GRCh38] Chr5:140953347 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154658]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769739]\|not provided [RCV001772349]	Chr5:141528941 [GRCh38] Chr5:140908508 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001240236]	Chr5:141587173 [GRCh38] Chr5:140966740 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*811A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155370]	Chr5:141516040 [GRCh38] Chr5:140895607 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*724C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155371]	Chr5:141516127 [GRCh38] Chr5:140895694 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001241891]	Chr5:141527639..141527640 [GRCh38] Chr5:140907206..140907207 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001216656]\|Inborn genetic diseases [RCV002561904]\|not provided [RCV001773483]	Chr5:141573589 [GRCh38] Chr5:140953156 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001202055]	Chr5:141587190 [GRCh38] Chr5:140966757 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.726A>T (p.Leu242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003106264]	Chr5:141580842 [GRCh38] Chr5:140960409 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1281-147T>G	single nucleotide variant	not provided [RCV001577466]	Chr5:141577018 [GRCh38] Chr5:140956585 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-121T>C	single nucleotide variant	not provided [RCV001551752]	Chr5:141526582 [GRCh38] Chr5:140906149 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3439-27G>A	single nucleotide variant	not provided [RCV001567745]	Chr5:141526200 [GRCh38] Chr5:140905767 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1380G>C (p.Glu460Asp)	single nucleotide variant	Inborn genetic diseases [RCV003292136]	Chr5:141576772 [GRCh38] Chr5:140956339 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+181C>G	single nucleotide variant	not provided [RCV001559979]	Chr5:141618617 [GRCh38] Chr5:140998184 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+101A>G	single nucleotide variant	not provided [RCV001560065]	Chr5:141584023 [GRCh38] Chr5:140963590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.-21C>T	single nucleotide variant	not provided [RCV001590763]	Chr5:141618935 [GRCh38] Chr5:140998502 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-156G>A	single nucleotide variant	not provided [RCV001698803]	Chr5:141574364 [GRCh38] Chr5:140953931 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1641+77C>T	single nucleotide variant	not provided [RCV001585587]	Chr5:141574890 [GRCh38] Chr5:140954457 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+122G>C	single nucleotide variant	not provided [RCV001550192]	Chr5:141571306 [GRCh38] Chr5:140950873 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-22dup	duplication	not provided [RCV001555427]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NC_000005.10:g.141619237G>T	single nucleotide variant	not provided [RCV001560854]	Chr5:141619237 [GRCh38] Chr5:140998804 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2581+240A>T	single nucleotide variant	not provided [RCV001645699]	Chr5:141534095 [GRCh38] Chr5:140913662 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3273+65G>A	single nucleotide variant	not provided [RCV001562168]	Chr5:141527508 [GRCh38] Chr5:140907075 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3155C>T (p.Ala1052Val)	single nucleotide variant	not provided [RCV001562329]	Chr5:141527691 [GRCh38] Chr5:140907258 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-204C>G	single nucleotide variant	not provided [RCV001562360]	Chr5:141581087 [GRCh38] Chr5:140960654 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-24T>G	single nucleotide variant	not provided [RCV001586408]	Chr5:141527721 [GRCh38] Chr5:140907288 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002072096]\|not provided [RCV001557306]	Chr5:141575126 [GRCh38] Chr5:140954693 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+8T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002072097]\|not provided [RCV001557351]	Chr5:141618790 [GRCh38] Chr5:140998357 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.402+58dup	duplication	not provided [RCV001577678]	Chr5:141584056..141584057 [GRCh38] Chr5:140963623..140963624 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+63G>A	single nucleotide variant	not provided [RCV001718383]	Chr5:141573429 [GRCh38] Chr5:140952996 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.117+238C>T	single nucleotide variant	not provided [RCV001545813]	Chr5:141618560 [GRCh38] Chr5:140998127 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2676+21G>A	single nucleotide variant	not provided [RCV001587703]	Chr5:141529582 [GRCh38] Chr5:140909149 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+57del	deletion	not provided [RCV001657001]	Chr5:141573435 [GRCh38] Chr5:140953002 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.117+9C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000973850]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001732000]	Chr5:141618789 [GRCh38] Chr5:140998356 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000978145]\|not provided [RCV001541302]	Chr5:141576814 [GRCh38] Chr5:140956381 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-5C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001398907]	Chr5:141587202 [GRCh38] Chr5:140966769 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151606]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001429705]	Chr5:141516893 [GRCh38] Chr5:140896460 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3149-25_3149-15dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002546040]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.685-8_685-6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001515903]	Chr5:141580889..141580891 [GRCh38] Chr5:140960456..140960458 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV000887542]\|DIAPH1-related disorder [RCV003955932]\|not provided [RCV001576993]	Chr5:141571962 [GRCh38] Chr5:140951529 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1044+9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001418921]	Chr5:141578506 [GRCh38] Chr5:140958073 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-4G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001423822]	Chr5:141517012 [GRCh38] Chr5:140896579 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2779-6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001393646]	Chr5:141528947 [GRCh38] Chr5:140908514 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001412682]	Chr5:141526042 [GRCh38] Chr5:140905609 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001199113]	Chr5:141527684 [GRCh38] Chr5:140907251 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151713]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769726]	Chr5:141575014 [GRCh38] Chr5:140954581 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151714]	Chr5:141575077 [GRCh38] Chr5:140954644 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001244153]	Chr5:141575013 [GRCh38] Chr5:140954580 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+12C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155596]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV005213474]	Chr5:141579076 [GRCh38] Chr5:140958643 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.933+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155597]	Chr5:141579083 [GRCh38] Chr5:140958650 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*521G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157058]	Chr5:141516330 [GRCh38] Chr5:140895897 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*332T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157059]	Chr5:141516519 [GRCh38] Chr5:140896086 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*325G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157060]	Chr5:141516526 [GRCh38] Chr5:140896093 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-4A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157271]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002070936]	Chr5:141582379 [GRCh38] Chr5:140961946 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001227289]	Chr5:141582319 [GRCh38] Chr5:140961886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152954]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002070861]	Chr5:141576793 [GRCh38] Chr5:140956360 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001401525]	Chr5:141516887 [GRCh38] Chr5:140896454 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+164T>C	single nucleotide variant	not provided [RCV001557321]	Chr5:141580580 [GRCh38] Chr5:140960147 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1164-186T>C	single nucleotide variant	not provided [RCV001562743]	Chr5:141577777 [GRCh38] Chr5:140957344 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+70G>C	single nucleotide variant	not provided [RCV001562889]	Chr5:141571358 [GRCh38] Chr5:140950925 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+143C>T	single nucleotide variant	not provided [RCV001548628]	Chr5:141573349 [GRCh38] Chr5:140952916 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+63T>A	single nucleotide variant	not provided [RCV001567931]	Chr5:141571863 [GRCh38] Chr5:140951430 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.-3G>C	single nucleotide variant	not provided [RCV001552244]	Chr5:141618917 [GRCh38] Chr5:140998484 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+213G>A	single nucleotide variant	not provided [RCV001570802]	Chr5:141576017 [GRCh38] Chr5:140955584 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-174G>A	single nucleotide variant	not provided [RCV001593887]	Chr5:141576468 [GRCh38] Chr5:140956035 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25_3149-24dup	duplication	not provided [RCV001693418]\|not specified [RCV001726612]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1641+51T>G	single nucleotide variant	not provided [RCV001554916]	Chr5:141574916 [GRCh38] Chr5:140954483 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-12T>G	single nucleotide variant	not provided [RCV002469828]	Chr5:141582387 [GRCh38] Chr5:140961954 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2778+27G>T	single nucleotide variant	not provided [RCV001576098]	Chr5:141529145 [GRCh38] Chr5:140908712 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-223C>T	single nucleotide variant	not provided [RCV001576506]	Chr5:141588473 [GRCh38] Chr5:140968040 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-57G>A	single nucleotide variant	not provided [RCV001569011]	Chr5:141534490 [GRCh38] Chr5:140914057 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-221A>G	single nucleotide variant	not provided [RCV001550528]	Chr5:141579417 [GRCh38] Chr5:140958984 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+28C>G	single nucleotide variant	not provided [RCV001556007]	Chr5:141580716 [GRCh38] Chr5:140960283 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+163G>T	single nucleotide variant	not provided [RCV001556127]	Chr5:141523980 [GRCh38] Chr5:140903547 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3469G>A (p.Glu1157Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004821417]	Chr5:141526143 [GRCh38] Chr5:140905710 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1462-241T>C	single nucleotide variant	not provided [RCV001722740]	Chr5:141575387 [GRCh38] Chr5:140954954 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2581+106A>G	single nucleotide variant	not provided [RCV001592366]	Chr5:141534229 [GRCh38] Chr5:140913796 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-224del	deletion	not provided [RCV001619507]	Chr5:141588474 [GRCh38] Chr5:140968041 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.118-240dup	duplication	not provided [RCV001621702]	Chr5:141588473..141588474 [GRCh38] Chr5:140968040..140968041 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.144+40T>C	single nucleotide variant	not provided [RCV001595996]	Chr5:141588184 [GRCh38] Chr5:140967751 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3149-96G>A	single nucleotide variant	not provided [RCV001593907]	Chr5:141527793 [GRCh38] Chr5:140907360 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001882721]\|not provided [RCV001593334]	Chr5:141584182 [GRCh38] Chr5:140963749 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1642-251T>C	single nucleotide variant	not provided [RCV001689222]	Chr5:141574459 [GRCh38] Chr5:140954026 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.301-230dup	duplication	not provided [RCV001621216]	Chr5:141584448..141584449 [GRCh38] Chr5:140964015..140964016 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2474-28T>C	single nucleotide variant	not provided [RCV001592598]	Chr5:141571464 [GRCh38] Chr5:140951031 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157173]	Chr5:141573859 [GRCh38] Chr5:140953426 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157270]	Chr5:141582331 [GRCh38] Chr5:140961898 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157172]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001237738]\|DIAPH1-related disorder [RCV004753219]\|Inborn genetic diseases [RCV004032826]	Chr5:141573814 [GRCh38] Chr5:140953381 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1044+15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152955]	Chr5:141578500 [GRCh38] Chr5:140958067 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001152956]	Chr5:141578578 [GRCh38] Chr5:140958145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155492]	Chr5:141529652 [GRCh38] Chr5:140909219 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155493]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769742]	Chr5:141571447 [GRCh38] Chr5:140951014 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001222636]	Chr5:141573701 [GRCh38] Chr5:140953268 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154654]	Chr5:141516934 [GRCh38] Chr5:140896501 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1309A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154535]	Chr5:141515542 [GRCh38] Chr5:140895109 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*870G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155368]	Chr5:141515981 [GRCh38] Chr5:140895548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155494]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769743]	Chr5:141573513 [GRCh38] Chr5:140953080 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3149-79T>C	single nucleotide variant	not provided [RCV001541430]	Chr5:141527776 [GRCh38] Chr5:140907343 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+58G>T	single nucleotide variant	not provided [RCV001651929]	Chr5:141573434 [GRCh38] Chr5:140953001 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.1164-308T>G	single nucleotide variant	not provided [RCV001665831]	Chr5:141577899 [GRCh38] Chr5:140957466 [GRCh37] Chr5:5q31.3	benign
NC_000005.10:g.141619209dup	duplication	not provided [RCV001710988]	Chr5:141619200..141619201 [GRCh38] Chr5:140998767..140998768 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3274-244_3274-243insAAAAA	insertion	not provided [RCV001651980]	Chr5:141526704..141526705 [GRCh38] Chr5:140906271..140906272 [GRCh37] Chr5:5q31.3	benign
NC_000005.10:g.(?_141516831)_(141618934_?)del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001031702]	Chr5:140896398..140998501 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.301-114_301-110del	deletion	not provided [RCV001644110]	Chr5:141584335..141584339 [GRCh38] Chr5:140963902..140963906 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001215634]	Chr5:141571989 [GRCh38] Chr5:140951556 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001041831]	Chr5:141575059 [GRCh38] Chr5:140954626 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001060332]	Chr5:141524166 [GRCh38] Chr5:140903733 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151821]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV001882470]	Chr5:141587112 [GRCh38] Chr5:140966679 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001042799]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001061302]	Chr5:141574015 [GRCh38] Chr5:140953582 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001036660]	Chr5:141571998 [GRCh38] Chr5:140951565 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001057925]\|Inborn genetic diseases [RCV004977955]	Chr5:141579196 [GRCh38] Chr5:140958763 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001058013]\|not provided [RCV004773273]	Chr5:141618827 [GRCh38] Chr5:140998394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs)	duplication	not provided [RCV001092022]	Chr5:141528818..141528819 [GRCh38] Chr5:140908385..140908386 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001204007]	Chr5:141573694 [GRCh38] Chr5:140953261 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001245910]	Chr5:141528914 [GRCh38] Chr5:140908481 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001220555]	Chr5:141526126 [GRCh38] Chr5:140905693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001220765]	Chr5:141579158 [GRCh38] Chr5:140958725 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001059819]	Chr5:141528578 [GRCh38] Chr5:140908145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001223317]\|Inborn genetic diseases [RCV004978140]	Chr5:141573996..141573997 [GRCh38] Chr5:140953563..140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*867G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155369]	Chr5:141515984 [GRCh38] Chr5:140895551 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001225104]	Chr5:141575031 [GRCh38] Chr5:140954598 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001155598]	Chr5:141579199 [GRCh38] Chr5:140958766 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001028027]	Chr5:141528775 [GRCh38] Chr5:140908342 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs)	deletion	Hearing impairment [RCV001003903]	Chr5:141524174..141524175 [GRCh38] Chr5:140903741..140903742 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001208737]	Chr5:141587148 [GRCh38] Chr5:140966715 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*1533C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001151523]	Chr5:141515318 [GRCh38] Chr5:140894885 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*644C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001157057]	Chr5:141516207 [GRCh38] Chr5:140895774 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001070526]	Chr5:141587042 [GRCh38] Chr5:140966609 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001154655]	Chr5:141526145 [GRCh38] Chr5:140905712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001216657]	Chr5:141582368 [GRCh38] Chr5:140961935 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.*224G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001253907]	Chr5:141516627 [GRCh38] Chr5:140896194 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.*88C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001253908]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV002480870]\|not provided [RCV004692354]	Chr5:141516763 [GRCh38] Chr5:140896330 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001350046]	Chr5:141527626..141527627 [GRCh38] Chr5:140907193..140907194 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001294486]	Chr5:141574967 [GRCh38] Chr5:140954534 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+280del	deletion	not provided [RCV001527864]	Chr5:141586762 [GRCh38] Chr5:140966329 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001301277]	Chr5:141580750 [GRCh38] Chr5:140960317 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001327453]	Chr5:141574093 [GRCh38] Chr5:140953660 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001296178]	Chr5:141578555 [GRCh38] Chr5:140958122 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001306021]	Chr5:141618835 [GRCh38] Chr5:140998402 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001307976]	Chr5:141573787 [GRCh38] Chr5:140953354 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001332582]	Chr5:141587188 [GRCh38] Chr5:140966755 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001317615]	Chr5:141528471 [GRCh38] Chr5:140908038 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001351414]\|Inborn genetic diseases [RCV002548477]	Chr5:141584219 [GRCh38] Chr5:140963786 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001302982]\|Inborn genetic diseases [RCV004978276]	Chr5:141526361 [GRCh38] Chr5:140905928 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001349692]	Chr5:141574118 [GRCh38] Chr5:140953685 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001320620]	Chr5:141573749 [GRCh38] Chr5:140953316 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)	duplication	Neonatal seizure [RCV001328493]	Chr5:141528484..141528485 [GRCh38] Chr5:140908051..140908052 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001326255]	Chr5:141580798 [GRCh38] Chr5:140960365 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001343948]	Chr5:141573745..141573783 [GRCh38] Chr5:140953312..140953350 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088]	Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-3C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001362312]	Chr5:141577594 [GRCh38] Chr5:140957161 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001392217]\|DIAPH1-related disorder [RCV003908557]	Chr5:141573522 [GRCh38] Chr5:140953089 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-7_3149-6insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001413748]	Chr5:141527703..141527704 [GRCh38] Chr5:140907270..140907271 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001362481]	Chr5:141577507 [GRCh38] Chr5:140957074 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001383240]	Chr5:141618806..141618807 [GRCh38] Chr5:140998373..140998374 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001371755]\|Inborn genetic diseases [RCV003284284]	Chr5:141574202 [GRCh38] Chr5:140953769 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2358+229G>A	single nucleotide variant	not provided [RCV001581666]	Chr5:141573263 [GRCh38] Chr5:140952830 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001344682]	Chr5:141578589 [GRCh38] Chr5:140958156 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001312356]	Chr5:141528925 [GRCh38] Chr5:140908492 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001312509]	Chr5:141576794 [GRCh38] Chr5:140956361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001307416]	Chr5:141534339 [GRCh38] Chr5:140913906 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001365006]	Chr5:141618902 [GRCh38] Chr5:140998469 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001321943]\|not provided [RCV001575208]	Chr5:141573997..141574011 [GRCh38] Chr5:140953564..140953578 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001315921]	Chr5:141573739 [GRCh38] Chr5:140953306 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001346032]\|not provided [RCV003238862]	Chr5:141526310 [GRCh38] Chr5:140905877 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001304168]\|Inborn genetic diseases [RCV004609739]	Chr5:141528842 [GRCh38] Chr5:140908409 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001338942]	Chr5:141516912 [GRCh38] Chr5:140896479 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001316079]\|Inborn genetic diseases [RCV004034382]\|not provided [RCV001578089]	Chr5:141526421 [GRCh38] Chr5:140905988 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001315042]\|Inborn genetic diseases [RCV002543661]	Chr5:141528874 [GRCh38] Chr5:140908441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001370452]	Chr5:141524160 [GRCh38] Chr5:140903727 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001340160]\|not provided [RCV001773677]	Chr5:141575065 [GRCh38] Chr5:140954632 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001319422]	Chr5:141516861 [GRCh38] Chr5:140896428 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001373054]	Chr5:141618849 [GRCh38] Chr5:140998416 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001363766]	Chr5:141583605 [GRCh38] Chr5:140963172 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001315214]\|DIAPH1-related disorder [RCV003898300]	Chr5:141528817 [GRCh38] Chr5:140908384 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001363867]	Chr5:141574030 [GRCh38] Chr5:140953597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001345594]	Chr5:141573751 [GRCh38] Chr5:140953318 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001350213]	Chr5:141517005 [GRCh38] Chr5:140896572 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001349654]	Chr5:141574054 [GRCh38] Chr5:140953621 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3273+8C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001297762]	Chr5:141527565 [GRCh38] Chr5:140907132 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001865876]\|Hearing impairment [RCV001375301]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)	duplication	Pendred syndrome [RCV001375466]	Chr5:141574011..141574012 [GRCh38] Chr5:140953578..140953579 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.145-1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001376740]\|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001332581]	Chr5:141587198 [GRCh38] Chr5:140966765 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001413356]\|not provided [RCV003433144]	Chr5:141526147 [GRCh38] Chr5:140905714 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001395078]	Chr5:141587090 [GRCh38] Chr5:140966657 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001313432]	Chr5:141528904 [GRCh38] Chr5:140908471 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter)	single nucleotide variant	Neonatal seizure [RCV001328492]	Chr5:141526122 [GRCh38] Chr5:140905689 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.3575-6T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001492176]	Chr5:141524235 [GRCh38] Chr5:140903802 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001495471]	Chr5:141528738 [GRCh38] Chr5:140908305 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001464296]	Chr5:141573717 [GRCh38] Chr5:140953284 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001435940]	Chr5:141578266 [GRCh38] Chr5:140957833 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.75G>A (p.Glu25=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001490933]	Chr5:141618840 [GRCh38] Chr5:140998407 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001417247]\|not provided [RCV003227974]	Chr5:141526060 [GRCh38] Chr5:140905627 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001462812]	Chr5:141528541 [GRCh38] Chr5:140908108 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1396+9A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001462839]	Chr5:141576747 [GRCh38] Chr5:140956314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001471497]	Chr5:141573756 [GRCh38] Chr5:140953323 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001403038]	Chr5:141578533 [GRCh38] Chr5:140958100 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001442012]	Chr5:141572029 [GRCh38] Chr5:140951596 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+10G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001462145]\|DIAPH1-related disorder [RCV003930963]\|not provided [RCV001797178]\|not specified [RCV001820157]	Chr5:141526028 [GRCh38] Chr5:140905595 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001439458]	Chr5:141574149 [GRCh38] Chr5:140953716 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001474399]\|DIAPH1-related disorder [RCV003980397]	Chr5:141526459 [GRCh38] Chr5:140906026 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001390711]	Chr5:141528579 [GRCh38] Chr5:140908146 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001501243]	Chr5:141528909 [GRCh38] Chr5:140908476 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001393814]	Chr5:141527627 [GRCh38] Chr5:140907194 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001427617]	Chr5:141587153 [GRCh38] Chr5:140966720 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV001438399]	Chr5:141578250..141578251 [GRCh38] Chr5:140957817..140957818 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.727C>T (p.Leu243=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001426487]	Chr5:141580841 [GRCh38] Chr5:140960408 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001430962]	Chr5:141571936 [GRCh38] Chr5:140951503 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001447018]	Chr5:141573822 [GRCh38] Chr5:140953389 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2850G>A (p.Val950=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001431124]	Chr5:141528870 [GRCh38] Chr5:140908437 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.840G>A (p.Leu280=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001408071]	Chr5:141579181 [GRCh38] Chr5:140958748 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1045-11G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001405996]	Chr5:141578354 [GRCh38] Chr5:140957921 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.735C>T (p.Val245=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001448114]	Chr5:141580833 [GRCh38] Chr5:140960400 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.930G>A (p.Leu310=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001406516]	Chr5:141579091 [GRCh38] Chr5:140958658 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-19T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001519194]\|not provided [RCV001568210]	Chr5:141582394 [GRCh38] Chr5:140961961 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001494789]	Chr5:141526162 [GRCh38] Chr5:140905729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+283dup	duplication	not provided [RCV001674955]	Chr5:141580450..141580451 [GRCh38] Chr5:140960017..140960018 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3661+34G>A	single nucleotide variant	not provided [RCV001572451]	Chr5:141524109 [GRCh38] Chr5:140903676 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001480882]	Chr5:141618788 [GRCh38] Chr5:140998355 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-25dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002501988]\|not provided [RCV001654301]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3575-78T>G	single nucleotide variant	not provided [RCV001587591]	Chr5:141524307 [GRCh38] Chr5:140903874 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001472038]	Chr5:141526084 [GRCh38] Chr5:140905651 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+36dup	duplication	not provided [RCV001530786]	Chr5:141573434..141573435 [GRCh38] Chr5:140953001..140953002 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001246768]	Chr5:141534371 [GRCh38] Chr5:140913938 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001215370]\|Inborn genetic diseases [RCV002561863]\|not provided [RCV005054345]	Chr5:141528907 [GRCh38] Chr5:140908474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001205206]	Chr5:141516999 [GRCh38] Chr5:140896566 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu)	single nucleotide variant	Hearing impairment [RCV001375329]	Chr5:141578613 [GRCh38] Chr5:140958180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1045-9T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001439078]	Chr5:141578352 [GRCh38] Chr5:140957919 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1045-20T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001520201]\|not provided [RCV001581171]	Chr5:141578363 [GRCh38] Chr5:140957930 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005219.5(DIAPH1):c.582T>C (p.Ile194=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001399706]	Chr5:141583244 [GRCh38] Chr5:140962811 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-9G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001485918]	Chr5:141588259 [GRCh38] Chr5:140967826 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001474015]	Chr5:141571930 [GRCh38] Chr5:140951497 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001498144]	Chr5:141575066 [GRCh38] Chr5:140954633 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001501923]	Chr5:141516878 [GRCh38] Chr5:140896445 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1280+7T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001457334]	Chr5:141577468 [GRCh38] Chr5:140957035 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001505109]	Chr5:141575160 [GRCh38] Chr5:140954727 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+8A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001454490]	Chr5:141524135 [GRCh38] Chr5:140903702 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+8G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001496674]\|DIAPH1-related disorder [RCV003980434]	Chr5:141526030 [GRCh38] Chr5:140905597 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.22C>T (p.Leu8=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001443704]	Chr5:141618893 [GRCh38] Chr5:140998460 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-20G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001454627]	Chr5:141579216 [GRCh38] Chr5:140958783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001400329]	Chr5:141528456 [GRCh38] Chr5:140908023 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001404761]	Chr5:141575099 [GRCh38] Chr5:140954666 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001432900]	Chr5:141573621 [GRCh38] Chr5:140953188 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV001483731]	Chr5:141576209..141576210 [GRCh38] Chr5:140955776..140955777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001483785]	Chr5:141573651 [GRCh38] Chr5:140953218 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001437728]	Chr5:141584116 [GRCh38] Chr5:140963683 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001472143]	Chr5:141526378 [GRCh38] Chr5:140905945 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001479562]\|DIAPH1-related disorder [RCV003980407]	Chr5:141571963 [GRCh38] Chr5:140951530 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+5G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003108433]	Chr5:141588219 [GRCh38] Chr5:140967786 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2140C>A (p.Pro714Thr)	single nucleotide variant	not provided [RCV001727334]	Chr5:141573710 [GRCh38] Chr5:140953277 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter)	single nucleotide variant	not specified [RCV002247135]	Chr5:141516964 [GRCh38] Chr5:140896531 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.762C>A (p.Asn254Lys)	single nucleotide variant	not provided [RCV001761186]	Chr5:141580806 [GRCh38] Chr5:140960373 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002540515]\|not provided [RCV001769459]	Chr5:141583288 [GRCh38] Chr5:140962855 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3054GTT[1] (p.Leu1020del)	microsatellite	not provided [RCV001763109]	Chr5:141528542..141528544 [GRCh38] Chr5:140908109..140908111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002540426]\|not provided [RCV001752357]	Chr5:141526311 [GRCh38] Chr5:140905878 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001944993]	Chr5:141579110..141579111 [GRCh38] Chr5:140958677..140958678 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3410A>T (p.Asp1137Val)	single nucleotide variant	not provided [RCV001786014]	Chr5:141526325 [GRCh38] Chr5:140905892 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002543957]\|Inborn genetic diseases [RCV004980635]\|not provided [RCV001751885]	Chr5:141526145 [GRCh38] Chr5:140905712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2685T>G (p.Ile895Met)	single nucleotide variant	not provided [RCV001752303]	Chr5:141529265 [GRCh38] Chr5:140908832 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val)	single nucleotide variant	not provided [RCV001752399]	Chr5:141516858 [GRCh38] Chr5:140896425 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213578]\|not provided [RCV001752513]	Chr5:141573871 [GRCh38] Chr5:140953438 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.658T>C (p.Cys220Arg)	single nucleotide variant	not provided [RCV001760815]	Chr5:141582338 [GRCh38] Chr5:140961905 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+9A>G	single nucleotide variant	not specified [RCV001819550]	Chr5:141579079 [GRCh38] Chr5:140958646 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+7T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002077277]\|not specified [RCV001822266]	Chr5:141587035 [GRCh38] Chr5:140966602 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001907915]\|Inborn genetic diseases [RCV003164214]	Chr5:141528490 [GRCh38] Chr5:140908057 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001971368]	Chr5:141578559 [GRCh38] Chr5:140958126 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001863727]	Chr5:141529256 [GRCh38] Chr5:140908823 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002024044]	Chr5:141516898 [GRCh38] Chr5:140896465 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001912245]	Chr5:141579167 [GRCh38] Chr5:140958734 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001915039]	Chr5:141577498 [GRCh38] Chr5:140957065 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001987934]	Chr5:141526316 [GRCh38] Chr5:140905883 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893034]\|Inborn genetic diseases [RCV004039169]\|not provided [RCV004774508]	Chr5:141577554 [GRCh38] Chr5:140957121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001988826]	Chr5:141578540 [GRCh38] Chr5:140958107 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893972]	Chr5:141527637 [GRCh38] Chr5:140907204 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001914695]	Chr5:141572029 [GRCh38] Chr5:140951596 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002044172]\|Inborn genetic diseases [RCV003164024]	Chr5:141574150 [GRCh38] Chr5:140953717 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001872903]	Chr5:141574042 [GRCh38] Chr5:140953609 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001873948]	Chr5:141587124 [GRCh38] Chr5:140966691 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001988501]	Chr5:141573800 [GRCh38] Chr5:140953367 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001896609]\|Inborn genetic diseases [RCV004611969]	Chr5:141573503 [GRCh38] Chr5:140953070 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.596A>G (p.His199Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001873008]	Chr5:141583230 [GRCh38] Chr5:140962797 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001895381]\|not provided [RCV003313244]	Chr5:141529634 [GRCh38] Chr5:140909201 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911913]	Chr5:141526395 [GRCh38] Chr5:140905962 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001965366]	Chr5:141573749 [GRCh38] Chr5:140953316 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001927694]	Chr5:141618819 [GRCh38] Chr5:140998386 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV001895444]	Chr5:141576270..141576271 [GRCh38] Chr5:140955837..140955838 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001970392]	Chr5:141527667 [GRCh38] Chr5:140907234 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001929099]\|not provided [RCV003238879]	Chr5:141573845..141573847 [GRCh38] Chr5:140953412..140953414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.684+6A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002023873]\|DIAPH1-related disorder [RCV003978466]	Chr5:141582306 [GRCh38] Chr5:140961873 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001971008]	Chr5:141578231 [GRCh38] Chr5:140957798 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002005309]	Chr5:141571985 [GRCh38] Chr5:140951552 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.114A>G (p.Lys38=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002045577]	Chr5:141618801 [GRCh38] Chr5:140998368 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001984846]\|Inborn genetic diseases [RCV004042904]	Chr5:141573935 [GRCh38] Chr5:140953502 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001966196]	Chr5:141574109 [GRCh38] Chr5:140953676 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001910179]	Chr5:141528563 [GRCh38] Chr5:140908130 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001986213]	Chr5:141573902 [GRCh38] Chr5:140953469 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV002003974]\|not provided [RCV004721000]	Chr5:141618855..141618856 [GRCh38] Chr5:140998422..140998423 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001894335]	Chr5:141578565 [GRCh38] Chr5:140958132 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001967370]	Chr5:141526442 [GRCh38] Chr5:140906009 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001861040]\|Vascular dementia [RCV002051760]\|not provided [RCV003317520]	Chr5:141578295 [GRCh38] Chr5:140957862 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002001817]\|Inborn genetic diseases [RCV002561525]	Chr5:141529177 [GRCh38] Chr5:140908744 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001945368]	Chr5:141574028 [GRCh38] Chr5:140953595 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-5T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001908332]	Chr5:141526466 [GRCh38] Chr5:140906033 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001966736]	Chr5:141534402 [GRCh38] Chr5:140913969 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002005155]	Chr5:141516889 [GRCh38] Chr5:140896456 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001892582]	Chr5:141516867 [GRCh38] Chr5:140896434 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001928426]	Chr5:141528799 [GRCh38] Chr5:140908366 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001912494]	Chr5:141573993..141573994 [GRCh38] Chr5:140953560..140953561 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001913206]	Chr5:141575002 [GRCh38] Chr5:140954569 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001970450]	Chr5:141573683 [GRCh38] Chr5:140953250 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002041820]\|not provided [RCV004693783]	Chr5:141618828 [GRCh38] Chr5:140998395 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001872506]	Chr5:141526403 [GRCh38] Chr5:140905970 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001987265]	Chr5:141526305 [GRCh38] Chr5:140905872 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001910875]	Chr5:141526062 [GRCh38] Chr5:140905629 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002004844]	Chr5:141583266 [GRCh38] Chr5:140962833 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001927877]	Chr5:141574169 [GRCh38] Chr5:140953736 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002043140]	Chr5:141527658 [GRCh38] Chr5:140907225 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001987321]\|not provided [RCV002225951]	Chr5:141576252 [GRCh38] Chr5:140955819 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001968320]	Chr5:141529186 [GRCh38] Chr5:140908753 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001983888]	Chr5:141588249 [GRCh38] Chr5:140967816 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001927503]	Chr5:141583506 [GRCh38] Chr5:140963073 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2677-9_2677-6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002003024]	Chr5:141529279..141529282 [GRCh38] Chr5:140908846..140908849 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002039599]	Chr5:141573825 [GRCh38] Chr5:140953392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001912718]	Chr5:141527634 [GRCh38] Chr5:140907201 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001986752]	Chr5:141583559 [GRCh38] Chr5:140963126 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893139]	Chr5:141583212 [GRCh38] Chr5:140962779 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV001893593]	Chr5:141573953..141573955 [GRCh38] Chr5:140953520..140953522 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001968507]	Chr5:141573820 [GRCh38] Chr5:140953387 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001928031]	Chr5:141573923 [GRCh38] Chr5:140953490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002023691]	Chr5:141574016 [GRCh38] Chr5:140953583 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001946468]	Chr5:141528473 [GRCh38] Chr5:140908040 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3018+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002002265]	Chr5:141528699 [GRCh38] Chr5:140908266 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3018+6C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911176]	Chr5:141528696 [GRCh38] Chr5:140908263 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001913437]	Chr5:141578598 [GRCh38] Chr5:140958165 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911202]	Chr5:141516922 [GRCh38] Chr5:140896489 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.975G>A (p.Ala325=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001984814]	Chr5:141578584 [GRCh38] Chr5:140958151 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001911516]	Chr5:141618799 [GRCh38] Chr5:140998366 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002050591]	Chr5:141575128 [GRCh38] Chr5:140954695 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.222A>G (p.Ser74=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002037604]	Chr5:141587120 [GRCh38] Chr5:140966687 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001943107]	Chr5:141583578 [GRCh38] Chr5:140963145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001944430]\|Inborn genetic diseases [RCV004612016]	Chr5:141573997 [GRCh38] Chr5:140953564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001880372]	Chr5:141573554 [GRCh38] Chr5:140953121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001886734]	Chr5:141524200 [GRCh38] Chr5:140903767 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001884549]	Chr5:141577542 [GRCh38] Chr5:140957109 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001974242]	Chr5:141516862 [GRCh38] Chr5:140896429 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002038592]	Chr5:141574051..141574056 [GRCh38] Chr5:140953618..140953623 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001886623]\|Inborn genetic diseases [RCV003264187]\|not provided [RCV005051924]	Chr5:141578237 [GRCh38] Chr5:140957804 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002000363]	Chr5:141574069 [GRCh38] Chr5:140953636 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002000793]	Chr5:141573541 [GRCh38] Chr5:140953108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002036485]	Chr5:141572040 [GRCh38] Chr5:140951607 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001884548]	Chr5:141571430 [GRCh38] Chr5:140950997 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001925363]\|not provided [RCV003229902]	Chr5:141573935 [GRCh38] Chr5:140953502 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1280+2T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002001052]	Chr5:141577473 [GRCh38] Chr5:140957040 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001942951]\|Inborn genetic diseases [RCV002556303]	Chr5:141578541 [GRCh38] Chr5:140958108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001923396]\|Inborn genetic diseases [RCV004975860]	Chr5:141528925 [GRCh38] Chr5:140908492 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001989378]	Chr5:141588241 [GRCh38] Chr5:140967808 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001887150]	Chr5:141587136 [GRCh38] Chr5:140966703 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001887293]	Chr5:141573959 [GRCh38] Chr5:140953526 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001958175]	Chr5:141579165 [GRCh38] Chr5:140958732 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001973906]\|Inborn genetic diseases [RCV002573422]	Chr5:141575002 [GRCh38] Chr5:140954569 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001878581]\|not provided [RCV003442924]	Chr5:141579099 [GRCh38] Chr5:140958666 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001992355]	Chr5:141573991 [GRCh38] Chr5:140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002051384]	Chr5:141573608 [GRCh38] Chr5:140953175 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001881540]\|not provided [RCV004693873]	Chr5:141528919 [GRCh38] Chr5:140908486 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-2A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002033446]	Chr5:141582377 [GRCh38] Chr5:140961944 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001957614]	Chr5:141576804 [GRCh38] Chr5:140956371 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002046865]	Chr5:141587103 [GRCh38] Chr5:140966670 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001878848]	Chr5:141573826 [GRCh38] Chr5:140953393 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001993784]	Chr5:141573583 [GRCh38] Chr5:140953150 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001995662]	Chr5:141516981 [GRCh38] Chr5:140896548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001900656]\|Inborn genetic diseases [RCV004611931]	Chr5:141578544 [GRCh38] Chr5:140958111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001876494]	Chr5:141527674 [GRCh38] Chr5:140907241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.70G>C (p.Asp24His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001993824]\|not specified [RCV005238125]	Chr5:141618845 [GRCh38] Chr5:140998412 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002031019]	Chr5:141516990 [GRCh38] Chr5:140896557 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001935379]	Chr5:141573661 [GRCh38] Chr5:140953228 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001897063]	Chr5:141582367 [GRCh38] Chr5:140961934 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002047345]	Chr5:141526074 [GRCh38] Chr5:140905641 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001919847]\|not provided [RCV002264421]	Chr5:141573741..141573742 [GRCh38] Chr5:140953308..140953309 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002027530]	Chr5:141573827 [GRCh38] Chr5:140953394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001902274]	Chr5:141524149 [GRCh38] Chr5:140903716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-18C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001989253]	Chr5:141572058 [GRCh38] Chr5:140951625 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001922152]	Chr5:141618843 [GRCh38] Chr5:140998410 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002047642]	Chr5:141573815 [GRCh38] Chr5:140953382 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002046391]	Chr5:141573866 [GRCh38] Chr5:140953433 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001917486]	Chr5:141575140 [GRCh38] Chr5:140954707 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.402+2T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001976454]	Chr5:141584122 [GRCh38] Chr5:140963689 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002036039]	Chr5:141573611 [GRCh38] Chr5:140953178 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3148+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903695]	Chr5:141528450 [GRCh38] Chr5:140908017 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001979977]	Chr5:141576789 [GRCh38] Chr5:140956356 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002049315]	Chr5:141582371 [GRCh38] Chr5:140961938 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997620]	Chr5:141527679 [GRCh38] Chr5:140907246 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001880335]	Chr5:141527680 [GRCh38] Chr5:140907247 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002030844]	Chr5:141573647 [GRCh38] Chr5:140953214 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001958540]	Chr5:141526399 [GRCh38] Chr5:140905966 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002035565]	Chr5:141580817 [GRCh38] Chr5:140960384 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002032960]	Chr5:141573520 [GRCh38] Chr5:140953087 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001960393]	Chr5:141574138 [GRCh38] Chr5:140953705 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002047041]	Chr5:141528794 [GRCh38] Chr5:140908361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001921599]	Chr5:141524175 [GRCh38] Chr5:140903742 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001995888]	Chr5:141582326 [GRCh38] Chr5:140961893 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001998385]	Chr5:141529587 [GRCh38] Chr5:140909154 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001866304]	Chr5:141526361 [GRCh38] Chr5:140905928 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903071]	Chr5:141587145 [GRCh38] Chr5:140966712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001981363]	Chr5:141574055 [GRCh38] Chr5:140953622 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001930160]	Chr5:141578283 [GRCh38] Chr5:140957850 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001918282]	Chr5:141573568 [GRCh38] Chr5:140953135 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001957988]	Chr5:141583541 [GRCh38] Chr5:140963108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002019627]\|not provided [RCV003481244]	Chr5:141582362 [GRCh38] Chr5:140961929 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002009700]	Chr5:141578571 [GRCh38] Chr5:140958138 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001878069]	Chr5:141528859 [GRCh38] Chr5:140908426 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002016718]\|DIAPH1-related disorder [RCV003893077]	Chr5:141516965 [GRCh38] Chr5:140896532 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001960016]	Chr5:141573613 [GRCh38] Chr5:140953180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001919895]\|not provided [RCV004815738]	Chr5:141575038 [GRCh38] Chr5:140954605 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001952532]\|Inborn genetic diseases [RCV004975920]\|not provided [RCV002077344]	Chr5:141577484 [GRCh38] Chr5:140957051 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997981]	Chr5:141573824 [GRCh38] Chr5:140953391 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001879679]	Chr5:141574084 [GRCh38] Chr5:140953651 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140896398)_(140998501_?)dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001981576]	Chr5:140896398..140998501 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001930703]	Chr5:141526433 [GRCh38] Chr5:140906000 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001923717]	Chr5:141573512 [GRCh38] Chr5:140953079 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001955378]	Chr5:141578557 [GRCh38] Chr5:140958124 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001937744]	Chr5:141534353 [GRCh38] Chr5:140913920 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002036578]	Chr5:141516922 [GRCh38] Chr5:140896489 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002011345]	Chr5:141516877 [GRCh38] Chr5:140896444 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001877895]	Chr5:141573667 [GRCh38] Chr5:140953234 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002013948]	Chr5:141573784 [GRCh38] Chr5:140953351 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001961085]	Chr5:141578333 [GRCh38] Chr5:140957900 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV001907129]	Chr5:141573749..141573750 [GRCh38] Chr5:140953316..140953317 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.27G>T (p.Gly9=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001959147]	Chr5:141618888 [GRCh38] Chr5:140998455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997671]	Chr5:141526149 [GRCh38] Chr5:140905716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001925680]\|Inborn genetic diseases [RCV004611988]	Chr5:141571929 [GRCh38] Chr5:140951496 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001997709]	Chr5:141573890 [GRCh38] Chr5:140953457 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001924852]	Chr5:141573925 [GRCh38] Chr5:140953492 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001998525]	Chr5:141583282 [GRCh38] Chr5:140962849 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001940540]	Chr5:141573789 [GRCh38] Chr5:140953356 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.139G>C (p.Asp47His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001982160]	Chr5:141588229 [GRCh38] Chr5:140967796 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001906522]	Chr5:141578543 [GRCh38] Chr5:140958110 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001998548]	Chr5:141573745 [GRCh38] Chr5:140953312 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001961024]	Chr5:141576842 [GRCh38] Chr5:140956409 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001933928]\|not provided [RCV003235625]	Chr5:141578541 [GRCh38] Chr5:140958108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001921212]	Chr5:141576285 [GRCh38] Chr5:140955852 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002027130]	Chr5:141576255 [GRCh38] Chr5:140955822 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903946]	Chr5:141573756..141573794 [GRCh38] Chr5:140953323..140953361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001903786]	Chr5:141527626 [GRCh38] Chr5:140907193 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002026119]\|DIAPH1-related disorder [RCV003402061]	Chr5:141574995 [GRCh38] Chr5:140954562 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001973803]	Chr5:141573832 [GRCh38] Chr5:140953399 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002012413]	Chr5:141528746 [GRCh38] Chr5:140908313 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001930547]\|Inborn genetic diseases [RCV002556400]	Chr5:141583281 [GRCh38] Chr5:140962848 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001916869]	Chr5:141529629 [GRCh38] Chr5:140909196 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001917826]	Chr5:141583550 [GRCh38] Chr5:140963117 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002010038]	Chr5:141584218 [GRCh38] Chr5:140963785 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001919830]	Chr5:141587089 [GRCh38] Chr5:140966656 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002050085]	Chr5:141572030 [GRCh38] Chr5:140951597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001973485]	Chr5:141526404 [GRCh38] Chr5:140905971 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001902144]	Chr5:141573614 [GRCh38] Chr5:140953181 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1397-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001883216]	Chr5:141576297 [GRCh38] Chr5:140955864 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001994060]\|not provided [RCV003442986]	Chr5:141577493 [GRCh38] Chr5:140957060 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001979609]	Chr5:141516852 [GRCh38] Chr5:140896419 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002029457]	Chr5:141573801..141573802 [GRCh38] Chr5:140953368..140953369 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001923402]	Chr5:141579082 [GRCh38] Chr5:140958649 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-11T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002148236]	Chr5:141517019 [GRCh38] Chr5:140896586 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.403-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002076376]	Chr5:141583626 [GRCh38] Chr5:140963193 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.250T>C (p.Leu84=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002105249]	Chr5:141587092 [GRCh38] Chr5:140966659 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-17T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002085253]	Chr5:141527714 [GRCh38] Chr5:140907281 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2778+20G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002073748]	Chr5:141529152 [GRCh38] Chr5:140908719 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002207262]	Chr5:141529284 [GRCh38] Chr5:140908851 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1821T>G (p.Thr607=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002191035]	Chr5:141574029 [GRCh38] Chr5:140953596 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1755C>T (p.Ala585=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002170202]	Chr5:141574095 [GRCh38] Chr5:140953662 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-19T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002086570]	Chr5:141527716 [GRCh38] Chr5:140907283 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2502T>C (p.Gly834=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002127865]	Chr5:141534414 [GRCh38] Chr5:140913981 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-14T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002205102]	Chr5:141527711 [GRCh38] Chr5:140907278 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+11T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002106539]	Chr5:141527562 [GRCh38] Chr5:140907129 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002164909]	Chr5:141588210 [GRCh38] Chr5:140967777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2025C>T (p.Ile675=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002145192]	Chr5:141573825 [GRCh38] Chr5:140953392 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1641+7C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002190052]	Chr5:141574960 [GRCh38] Chr5:140954527 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.546A>G (p.Thr182=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002187884]	Chr5:141583280 [GRCh38] Chr5:140962847 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002185499]	Chr5:141534442 [GRCh38] Chr5:140914009 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2547A>G (p.Leu849=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002186300]	Chr5:141534369 [GRCh38] Chr5:140913936 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2568A>G (p.Thr856=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002110237]	Chr5:141534348 [GRCh38] Chr5:140913915 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-12dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002126846]	Chr5:141587208..141587209 [GRCh38] Chr5:140966775..140966776 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2358+7G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002189271]	Chr5:141573485 [GRCh38] Chr5:140953052 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.999C>T (p.His333=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002125661]	Chr5:141578560 [GRCh38] Chr5:140958127 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1635A>C (p.Thr545=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002127047]	Chr5:141574973 [GRCh38] Chr5:140954540 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002207410]	Chr5:141584108 [GRCh38] Chr5:140963675 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.726A>C (p.Leu242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002072422]	Chr5:141580842 [GRCh38] Chr5:140960409 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2589T>C (p.Phe863=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002124300]	Chr5:141529690 [GRCh38] Chr5:140909257 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2622T>A (p.Ile874=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002105502]	Chr5:141529657 [GRCh38] Chr5:140909224 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2676+8G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002147003]	Chr5:141529595 [GRCh38] Chr5:140909162 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002125148]	Chr5:141524127 [GRCh38] Chr5:140903694 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.759C>T (p.Pro253=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002125120]	Chr5:141580809 [GRCh38] Chr5:140960376 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002167289]	Chr5:141571418 [GRCh38] Chr5:140950985 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.27G>A (p.Gly9=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002210099]	Chr5:141618888 [GRCh38] Chr5:140998455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-20G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002127824]	Chr5:141579216 [GRCh38] Chr5:140958783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+18A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002165884]	Chr5:141576212 [GRCh38] Chr5:140955779 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.301-4C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002169334]	Chr5:141584229 [GRCh38] Chr5:140963796 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+19G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002107336]	Chr5:141588205 [GRCh38] Chr5:140967772 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+16del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002087192]	Chr5:141528437 [GRCh38] Chr5:140908004 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.348G>A (p.Lys116=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002192207]	Chr5:141584178 [GRCh38] Chr5:140963745 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-17del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002210056]	Chr5:141528599 [GRCh38] Chr5:140908166 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1587A>G (p.Gln529=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002210518]	Chr5:141575021 [GRCh38] Chr5:140954588 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002174153]	Chr5:141517014 [GRCh38] Chr5:140896581 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-17C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002111021]	Chr5:141517025 [GRCh38] Chr5:140896592 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3149-14_3149-13insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002113343]	Chr5:141527710..141527711 [GRCh38] Chr5:140907277..140907278 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2988T>A (p.Ala996=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002080227]	Chr5:141528732 [GRCh38] Chr5:140908299 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1239C>T (p.Ile413=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002194515]	Chr5:141577516 [GRCh38] Chr5:140957083 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.69A>T (p.Pro23=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002113110]	Chr5:141618846 [GRCh38] Chr5:140998413 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2779-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002097178]	Chr5:141528961 [GRCh38] Chr5:140908528 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1029A>G (p.Leu343=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002093367]	Chr5:141578530 [GRCh38] Chr5:140958097 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+14_402+33del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002094798]	Chr5:141584091..141584110 [GRCh38] Chr5:140963658..140963677 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215992]	Chr5:141579211 [GRCh38] Chr5:140958778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002135216]	Chr5:141526022 [GRCh38] Chr5:140905589 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002171563]	Chr5:141516944 [GRCh38] Chr5:140896511 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+19_1461+20delinsGA	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV002134730]	Chr5:141576210..141576211 [GRCh38] Chr5:140955777..140955778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116930]	Chr5:141575157 [GRCh38] Chr5:140954724 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-20del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002145550]	Chr5:141572060 [GRCh38] Chr5:140951627 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+17A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002115408]	Chr5:141573475 [GRCh38] Chr5:140953042 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-10T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002079479]	Chr5:141526471 [GRCh38] Chr5:140906038 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-19T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002078111]	Chr5:141575165 [GRCh38] Chr5:140954732 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1212A>G (p.Ser404=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002095231]	Chr5:141577543 [GRCh38] Chr5:140957110 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1488T>C (p.His496=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215201]	Chr5:141575120 [GRCh38] Chr5:140954687 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-18_3149-17insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116910]	Chr5:141527714..141527715 [GRCh38] Chr5:140907281..140907282 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215120]\|not provided [RCV003426306]	Chr5:141526093 [GRCh38] Chr5:140905660 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.54G>A (p.Lys18=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002192763]	Chr5:141618861 [GRCh38] Chr5:140998428 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2640G>A (p.Glu880=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002193748]	Chr5:141529639 [GRCh38] Chr5:140909206 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-20_3149-19insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002215148]	Chr5:141527716..141527717 [GRCh38] Chr5:140907283..140907284 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-16C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002129032]	Chr5:141528598 [GRCh38] Chr5:140908165 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.533+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002112826]	Chr5:141583474 [GRCh38] Chr5:140963041 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2217T>G (p.Pro739=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002187129]	Chr5:141573633 [GRCh38] Chr5:140953200 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2208T>C (p.Pro736=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002109456]	Chr5:141573642 [GRCh38] Chr5:140953209 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+14C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002079492]	Chr5:141579074 [GRCh38] Chr5:140958641 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.942C>T (p.Cys314=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173050]	Chr5:141578617 [GRCh38] Chr5:140958184 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-18C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173635]	Chr5:141588268 [GRCh38] Chr5:140967835 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-17A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002147934]	Chr5:141534450 [GRCh38] Chr5:140914017 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3633A>T (p.Ala1211=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002089985]	Chr5:141524171 [GRCh38] Chr5:140903738 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1842T>G (p.Pro614=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002077684]	Chr5:141574008 [GRCh38] Chr5:140953575 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002212133]	Chr5:141579212 [GRCh38] Chr5:140958779 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3132G>C (p.Val1044=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116400]	Chr5:141528469 [GRCh38] Chr5:140908036 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2256A>T (p.Pro752=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002086292]	Chr5:141573594 [GRCh38] Chr5:140953161 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-15dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173838]	Chr5:141575160..141575161 [GRCh38] Chr5:140954727..140954728 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-13T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116664]	Chr5:141527710 [GRCh38] Chr5:140907277 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.939A>G (p.Gly313=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002116890]	Chr5:141578620 [GRCh38] Chr5:140958187 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1674C>T (p.Ala558=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002115637]	Chr5:141574176 [GRCh38] Chr5:140953743 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1281-20C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002173902]	Chr5:141576891 [GRCh38] Chr5:140956458 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1167C>T (p.Asp389=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002148807]	Chr5:141577588 [GRCh38] Chr5:140957155 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.213T>C (p.Ser71=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002105200]	Chr5:141587129 [GRCh38] Chr5:140966696 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103885]	Chr5:141576307 [GRCh38] Chr5:140955874 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2292A>G (p.Pro764=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103937]	Chr5:141573558 [GRCh38] Chr5:140953125 [GRCh37] Chr5:5q31.3	likely benign
Single allele	deletion	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV002227585]	Chr5:141572725..141615700 [GRCh38] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1641+7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002218714]	Chr5:141574960 [GRCh38] Chr5:140954527 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3030C>G (p.Thr1010=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002098347]	Chr5:141528571 [GRCh38] Chr5:140908138 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002136028]	Chr5:141571908 [GRCh38] Chr5:140951475 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2931A>G (p.Leu977=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002137665]	Chr5:141528789 [GRCh38] Chr5:140908356 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1280+15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002136315]	Chr5:141577460 [GRCh38] Chr5:140957027 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2010T>C (p.Pro670=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002217863]	Chr5:141573840 [GRCh38] Chr5:140953407 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-14C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002140675]	Chr5:141529287 [GRCh38] Chr5:140908854 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002161273]	Chr5:141527562 [GRCh38] Chr5:140907129 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.738A>G (p.Arg246=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002218390]	Chr5:141580830 [GRCh38] Chr5:140960397 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1377T>A (p.Ile459=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002218289]	Chr5:141576775 [GRCh38] Chr5:140956342 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-10G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002199680]	Chr5:141580893 [GRCh38] Chr5:140960460 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3330C>T (p.Asn1110=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002181053]	Chr5:141526405 [GRCh38] Chr5:140905972 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+19C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002144563]	Chr5:141571409 [GRCh38] Chr5:140950976 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002160012]	Chr5:141574217 [GRCh38] Chr5:140953784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2100T>C (p.Ile700=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002142955]	Chr5:141573750 [GRCh38] Chr5:140953317 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-7dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002117886]	Chr5:141575152..141575153 [GRCh38] Chr5:140954719..140954720 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.621-18T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002081856]	Chr5:141582393 [GRCh38] Chr5:140961960 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002143614]	Chr5:141517015 [GRCh38] Chr5:140896582 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002100825]	Chr5:141573809 [GRCh38] Chr5:140953376 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1683A>G (p.Glu561=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002100826]	Chr5:141574167 [GRCh38] Chr5:140953734 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002204547]	Chr5:141573997..141574017 [GRCh38] Chr5:140953564..140953584 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1281-20C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002098962]	Chr5:141576891 [GRCh38] Chr5:140956458 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2103C>G (p.Pro701=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002204716]	Chr5:141573747 [GRCh38] Chr5:140953314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.934-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103102]	Chr5:141578631 [GRCh38] Chr5:140958198 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-4C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002176713]	Chr5:141575150 [GRCh38] Chr5:140954717 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.246G>A (p.Gln82=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002157476]	Chr5:141587096 [GRCh38] Chr5:140966663 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3198T>C (p.Ile1066=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002162590]\|not specified [RCV004801163]	Chr5:141527648 [GRCh38] Chr5:140907215 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-19A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002082929]	Chr5:141572059 [GRCh38] Chr5:140951626 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.630T>C (p.Asp210=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002157629]	Chr5:141582366 [GRCh38] Chr5:140961933 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1704A>G (p.Ala568=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002097846]	Chr5:141574146 [GRCh38] Chr5:140953713 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2487G>A (p.Lys829=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002137426]	Chr5:141534429 [GRCh38] Chr5:140913996 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1126C>T (p.Leu376=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002179064]	Chr5:141578262 [GRCh38] Chr5:140957829 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3156T>G (p.Ala1052=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002162983]	Chr5:141527690 [GRCh38] Chr5:140907257 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-9T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002083498]	Chr5:141572049 [GRCh38] Chr5:140951616 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.711A>G (p.Thr237=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002182640]	Chr5:141580857 [GRCh38] Chr5:140960424 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.9G>C (p.Pro3=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002144518]	Chr5:141618906 [GRCh38] Chr5:140998473 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.684+18C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002098314]	Chr5:141582294 [GRCh38] Chr5:140961861 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.534-17C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002135928]	Chr5:141583309 [GRCh38] Chr5:140962876 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2649G>A (p.Glu883=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002103847]	Chr5:141529630 [GRCh38] Chr5:140909197 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002118477]	Chr5:141572056 [GRCh38] Chr5:140951623 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.574T>C (p.Leu192=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002158573]	Chr5:141583252 [GRCh38] Chr5:140962819 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.180G>A (p.Glu60=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002120711]	Chr5:141587162 [GRCh38] Chr5:140966729 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1462-13G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002202582]	Chr5:141575159 [GRCh38] Chr5:140954726 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1935G>A (p.Leu645=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002122482]	Chr5:141573915 [GRCh38] Chr5:140953482 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.90C>G (p.Gly30=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002175217]	Chr5:141618825 [GRCh38] Chr5:140998392 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1458G>A (p.Lys486=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002153922]\|not provided [RCV005232894]	Chr5:141576233 [GRCh38] Chr5:140955800 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3018+16A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002203427]	Chr5:141528686 [GRCh38] Chr5:140908253 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-37TTGGTC[4]	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002202067]	Chr5:141526480..141526481 [GRCh38] Chr5:140906047..140906048 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1045-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002199898]	Chr5:141578359 [GRCh38] Chr5:140957926 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+12C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002183337]	Chr5:141524131 [GRCh38] Chr5:140903698 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2433T>G (p.Leu811=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002219092]	Chr5:141571966 [GRCh38] Chr5:140951533 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-15T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002123452]	Chr5:141527712 [GRCh38] Chr5:140907279 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002154855]	Chr5:141579074 [GRCh38] Chr5:140958641 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1116T>C (p.Asp372=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002102834]	Chr5:141578272 [GRCh38] Chr5:140957839 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002101095]	Chr5:141588216 [GRCh38] Chr5:140967783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3117C>T (p.Asp1039=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002204701]	Chr5:141528484 [GRCh38] Chr5:140908051 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002184381]	Chr5:141582384 [GRCh38] Chr5:140961951 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.990C>T (p.Phe330=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002161324]	Chr5:141578569 [GRCh38] Chr5:140958136 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+14A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002182819]	Chr5:141583192 [GRCh38] Chr5:140962759 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2779-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003110643]	Chr5:141528955 [GRCh38] Chr5:140908522 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3168A>G (p.Gln1056=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003110226]\|DIAPH1-related disorder [RCV004753658]	Chr5:141527678 [GRCh38] Chr5:140907245 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003111838]	Chr5:141529674 [GRCh38] Chr5:140909241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003112231]	Chr5:141526134 [GRCh38] Chr5:140905701 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.144+18A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003118533]	Chr5:141588206 [GRCh38] Chr5:140967773 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2053G>A (p.Ala685Thr)	single nucleotide variant	not provided [RCV004784528]	Chr5:141573797 [GRCh38] Chr5:140953364 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003105169]	Chr5:141573998 [GRCh38] Chr5:140953565 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3111T>A (p.Phe1037Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005225579]\|See cases [RCV002252389]	Chr5:141528490 [GRCh38] Chr5:140908057 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.503T>C (p.Leu168Pro)	single nucleotide variant	not provided [RCV002276138]	Chr5:141583515 [GRCh38] Chr5:140963082 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002573630]\|not provided [RCV002474130]	Chr5:141526148 [GRCh38] Chr5:140905715 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002299931]	Chr5:141573814 [GRCh38] Chr5:140953381 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304146]	Chr5:141574066 [GRCh38] Chr5:140953633 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002295031]	Chr5:141578525 [GRCh38] Chr5:140958092 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002296149]\|Inborn genetic diseases [RCV003102251]	Chr5:141524145 [GRCh38] Chr5:140903712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298017]\|Inborn genetic diseases [RCV004973423]	Chr5:141573521 [GRCh38] Chr5:140953088 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298250]	Chr5:141576783 [GRCh38] Chr5:140956350 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304872]	Chr5:141578234 [GRCh38] Chr5:140957801 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002295741]	Chr5:141528719 [GRCh38] Chr5:140908286 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298354]	Chr5:141578559 [GRCh38] Chr5:140958126 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002301871]	Chr5:141618899 [GRCh38] Chr5:140998466 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002305003]	Chr5:141516976 [GRCh38] Chr5:140896543 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002303651]	Chr5:141578312 [GRCh38] Chr5:140957879 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002303861]	Chr5:141574048 [GRCh38] Chr5:140953615 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003775023]\|not provided [RCV002308902]	Chr5:141571938 [GRCh38] Chr5:140951505 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002296248]	Chr5:141526427 [GRCh38] Chr5:140905994 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002299621]	Chr5:141571938 [GRCh38] Chr5:140951505 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304409]	Chr5:141618909 [GRCh38] Chr5:140998476 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002304112]	Chr5:141529694 [GRCh38] Chr5:140909261 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298027]	Chr5:141534421 [GRCh38] Chr5:140913988 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002298957]	Chr5:141574009 [GRCh38] Chr5:140953576 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002299095]	Chr5:141573793 [GRCh38] Chr5:140953360 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1371C>T (p.Leu457=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002838360]	Chr5:141576781 [GRCh38] Chr5:140956348 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2702C>T (p.Pro901Leu)	single nucleotide variant	not provided [RCV002462489]	Chr5:141529248 [GRCh38] Chr5:140908815 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3152C>G (p.Ser1051Cys)	single nucleotide variant	Inborn genetic diseases [RCV002749746]	Chr5:141527694 [GRCh38] Chr5:140907261 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003012352]	Chr5:141618872 [GRCh38] Chr5:140998439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002774932]	Chr5:141571456 [GRCh38] Chr5:140951023 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002750276]	Chr5:141528703 [GRCh38] Chr5:140908270 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3645G>A (p.Lys1215=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002861997]	Chr5:141524159 [GRCh38] Chr5:140903726 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002750875]	Chr5:141574007 [GRCh38] Chr5:140953574 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003074462]	Chr5:141573989 [GRCh38] Chr5:140953556 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+7T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002903613]	Chr5:141578508 [GRCh38] Chr5:140958075 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003075380]	Chr5:141574088 [GRCh38] Chr5:140953655 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002967444]	Chr5:141587086 [GRCh38] Chr5:140966653 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-13C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003013650]	Chr5:141582388 [GRCh38] Chr5:140961955 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.258T>C (p.Asp86=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002904821]	Chr5:141587084 [GRCh38] Chr5:140966651 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002970915]	Chr5:141524129 [GRCh38] Chr5:140903696 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003076459]	Chr5:141573688 [GRCh38] Chr5:140953255 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002975088]	Chr5:141577591 [GRCh38] Chr5:140957158 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002614591]	Chr5:141574094 [GRCh38] Chr5:140953661 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2448C>G (p.Thr816=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016885]	Chr5:141571951 [GRCh38] Chr5:140951518 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2511A>G (p.Glu837=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002843025]	Chr5:141534405 [GRCh38] Chr5:140913972 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2439C>T (p.Ala813=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016917]	Chr5:141571960 [GRCh38] Chr5:140951527 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-15C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002908590]	Chr5:141517023 [GRCh38] Chr5:140896590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003099005]	Chr5:141534362 [GRCh38] Chr5:140913929 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003012221]	Chr5:141573498..141573499 [GRCh38] Chr5:140953065..140953066 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3591T>A (p.Gly1197=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002975427]	Chr5:141524213 [GRCh38] Chr5:140903780 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002861888]	Chr5:141574013..141574014 [GRCh38] Chr5:140953580..140953581 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002618027]	Chr5:141528805 [GRCh38] Chr5:140908372 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002996830]	Chr5:141580807 [GRCh38] Chr5:140960374 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002685830]	Chr5:141573607 [GRCh38] Chr5:140953174 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016912]	Chr5:141573544 [GRCh38] Chr5:140953111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003034128]	Chr5:141577490 [GRCh38] Chr5:140957057 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-20T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003032374]	Chr5:141587217 [GRCh38] Chr5:140966784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002971400]\|not provided [RCV004765609]	Chr5:141580759 [GRCh38] Chr5:140960326 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.120T>A (p.Thr40=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002816210]	Chr5:141588248 [GRCh38] Chr5:140967815 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1494A>G (p.Leu498=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002881976]	Chr5:141575114 [GRCh38] Chr5:140954681 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2367T>G (p.Ala789=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002863016]	Chr5:141572032 [GRCh38] Chr5:140951599 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002681626]	Chr5:141587100 [GRCh38] Chr5:140966667 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2949T>A (p.Val983=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002681643]	Chr5:141528771 [GRCh38] Chr5:140908338 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002842359]	Chr5:141528911 [GRCh38] Chr5:140908478 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002616656]	Chr5:141573517 [GRCh38] Chr5:140953084 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-7G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002863671]	Chr5:141526468 [GRCh38] Chr5:140906035 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1617A>G (p.Ala539=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002863488]	Chr5:141574991 [GRCh38] Chr5:140954558 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-17T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002755071]	Chr5:141587214 [GRCh38] Chr5:140966781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.118-18C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002994165]	Chr5:141588268 [GRCh38] Chr5:140967835 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002751325]	Chr5:141618789 [GRCh38] Chr5:140998356 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-11C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003033888]	Chr5:141529284 [GRCh38] Chr5:140908851 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002819260]	Chr5:141572025 [GRCh38] Chr5:140951592 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.915A>G (p.Gly305=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003012411]	Chr5:141579106 [GRCh38] Chr5:140958673 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002756407]	Chr5:141517011 [GRCh38] Chr5:140896578 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002839545]\|Inborn genetic diseases [RCV002846445]	Chr5:141574001 [GRCh38] Chr5:140953568 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002838790]	Chr5:141527599 [GRCh38] Chr5:140907166 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.501C>T (p.Ser167=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002690280]	Chr5:141583517 [GRCh38] Chr5:140963084 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1368C>T (p.His456=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003016797]	Chr5:141576784 [GRCh38] Chr5:140956351 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002774794]	Chr5:141588204 [GRCh38] Chr5:140967771 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002819509]	Chr5:141527664 [GRCh38] Chr5:140907231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2582-18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003038249]	Chr5:141529715 [GRCh38] Chr5:140909282 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002927860]	Chr5:141528569 [GRCh38] Chr5:140908136 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003021831]	Chr5:141578538 [GRCh38] Chr5:140958105 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003081684]	Chr5:141571945 [GRCh38] Chr5:140951512 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003021495]	Chr5:141573775 [GRCh38] Chr5:140953342 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-4C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002847875]	Chr5:141577595 [GRCh38] Chr5:140957162 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002696325]	Chr5:141527623 [GRCh38] Chr5:140907190 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003077682]\|not provided [RCV003143468]	Chr5:141574024 [GRCh38] Chr5:140953591 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-6A>G	single nucleotide variant	Inborn genetic diseases [RCV002708193]	Chr5:141582381 [GRCh38] Chr5:140961948 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1567C>T (p.Leu523=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002825078]	Chr5:141575041 [GRCh38] Chr5:140954608 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+15C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003039449]	Chr5:141526023 [GRCh38] Chr5:140905590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003000009]	Chr5:141528461 [GRCh38] Chr5:140908028 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003003079]	Chr5:141618868 [GRCh38] Chr5:140998435 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.228G>A (p.Gly76=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002695926]	Chr5:141587114 [GRCh38] Chr5:140966681 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2175A>G (p.Gly725=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002797014]	Chr5:141573675 [GRCh38] Chr5:140953242 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+8G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002912945]	Chr5:141526030 [GRCh38] Chr5:140905597 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003771994]\|not provided [RCV001756815]	Chr5:141573994 [GRCh38] Chr5:140953561 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001915563]\|DIAPH1-related disorder [RCV003416572]	Chr5:141577497 [GRCh38] Chr5:140957064 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1068A>G (p.Glu356=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002022027]	Chr5:141578320 [GRCh38] Chr5:140957887 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001946008]	Chr5:141584174 [GRCh38] Chr5:140963741 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001953303]	Chr5:141573923 [GRCh38] Chr5:140953490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV001954639]\|Inborn genetic diseases [RCV002560413]	Chr5:141587062 [GRCh38] Chr5:140966629 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002049721]	Chr5:141587118 [GRCh38] Chr5:140966685 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-5T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002110082]	Chr5:141526466 [GRCh38] Chr5:140906033 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1806T>G (p.Pro602=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002174169]	Chr5:141574044 [GRCh38] Chr5:140953611 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2994C>T (p.Gly998=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002185160]	Chr5:141528726 [GRCh38] Chr5:140908293 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1350T>C (p.Pro450=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002155780]	Chr5:141576802 [GRCh38] Chr5:140956369 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1590T>C (p.Ile530=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002181577]	Chr5:141575018 [GRCh38] Chr5:140954585 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.243A>C (p.Ala81=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002083707]	Chr5:141587099 [GRCh38] Chr5:140966666 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.684+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002881758]	Chr5:141582309 [GRCh38] Chr5:140961876 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002880613]	Chr5:141524148..141524149 [GRCh38] Chr5:140903715..140903716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777915]\|Inborn genetic diseases [RCV002905303]\|not provided [RCV004593190]\|not specified [RCV003226572]	Chr5:141573923 [GRCh38] Chr5:140953490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3575-9T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002861995]	Chr5:141524238 [GRCh38] Chr5:140903805 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661+13A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002847690]	Chr5:141524130 [GRCh38] Chr5:140903697 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1962C>G (p.Pro654=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002706146]	Chr5:141573888 [GRCh38] Chr5:140953455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003018688]	Chr5:141528517 [GRCh38] Chr5:140908084 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002705600]	Chr5:141571923 [GRCh38] Chr5:140951490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002591347]	Chr5:141573956 [GRCh38] Chr5:140953523 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1830T>C (p.Pro610=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002867407]	Chr5:141574020 [GRCh38] Chr5:140953587 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-5A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002979389]	Chr5:141580888 [GRCh38] Chr5:140960455 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002591392]	Chr5:141573718 [GRCh38] Chr5:140953285 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002843932]	Chr5:141577487 [GRCh38] Chr5:140957054 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002736541]	Chr5:141574971 [GRCh38] Chr5:140954538 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003036447]	Chr5:141534409 [GRCh38] Chr5:140913976 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2460T>G (p.Ser820=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002866705]	Chr5:141571939 [GRCh38] Chr5:140951506 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2808C>A (p.Arg936=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002690804]\|DIAPH1-related disorder [RCV004753576]	Chr5:141528912 [GRCh38] Chr5:140908479 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002658994]	Chr5:141528455 [GRCh38] Chr5:140908022 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002796409]	Chr5:141574969 [GRCh38] Chr5:140954536 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-10del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002619645]	Chr5:141534443 [GRCh38] Chr5:140914010 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003078201]	Chr5:141526146 [GRCh38] Chr5:140905713 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-5C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002662334]	Chr5:141572045 [GRCh38] Chr5:140951612 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3704C>T (p.Ser1235Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209591]\|Inborn genetic diseases [RCV002978118]	Chr5:141516966 [GRCh38] Chr5:140896533 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2106C>A (p.Pro702=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002619425]	Chr5:141573744 [GRCh38] Chr5:140953311 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002735083]	Chr5:141534364 [GRCh38] Chr5:140913931 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002637657]	Chr5:141516994 [GRCh38] Chr5:140896561 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-10C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003080885]	Chr5:141582385 [GRCh38] Chr5:140961952 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2358+20_2358+23del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002927361]	Chr5:141573469..141573472 [GRCh38] Chr5:140953036..140953039 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002866608]	Chr5:141524228 [GRCh38] Chr5:140903795 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002662467]	Chr5:141573959 [GRCh38] Chr5:140953526 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3063C>T (p.His1021=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002927574]	Chr5:141528538 [GRCh38] Chr5:140908105 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.96C>T (p.Asp32=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002885178]	Chr5:141618819 [GRCh38] Chr5:140998386 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+3A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003035276]	Chr5:141579085 [GRCh38] Chr5:140958652 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002795135]	Chr5:141574082 [GRCh38] Chr5:140953649 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002705906]	Chr5:141574045 [GRCh38] Chr5:140953612 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003079815]\|Inborn genetic diseases [RCV004978569]	Chr5:141528755 [GRCh38] Chr5:140908322 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.30C>T (p.Pro10=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002791533]	Chr5:141618885 [GRCh38] Chr5:140998452 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002932247]	Chr5:141580898 [GRCh38] Chr5:140960465 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1163+14dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002851451]	Chr5:141578210..141578211 [GRCh38] Chr5:140957777..140957778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002958992]	Chr5:141534428 [GRCh38] Chr5:140913995 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003042581]	Chr5:141577525 [GRCh38] Chr5:140957092 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3351G>A (p.Glu1117=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002876286]	Chr5:141526384 [GRCh38] Chr5:140905951 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3575-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002894635]	Chr5:141524243 [GRCh38] Chr5:140903810 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2103C>A (p.Pro701=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002929185]	Chr5:141573747 [GRCh38] Chr5:140953314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003024617]	Chr5:141573883 [GRCh38] Chr5:140953450 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002595897]	Chr5:141576252 [GRCh38] Chr5:140955819 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003026036]	Chr5:141587149 [GRCh38] Chr5:140966716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003005088]	Chr5:141578292 [GRCh38] Chr5:140957859 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1386G>A (p.Glu462=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002574412]	Chr5:141576766 [GRCh38] Chr5:140956333 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003039921]	Chr5:141528776 [GRCh38] Chr5:140908343 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002872286]	Chr5:141584238 [GRCh38] Chr5:140963805 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002890804]	Chr5:141574071 [GRCh38] Chr5:140953638 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1744G>A (p.Val582Ile)	single nucleotide variant	not provided [RCV002508585]	Chr5:141574106 [GRCh38] Chr5:140953673 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2682C>T (p.Leu894=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002917548]	Chr5:141529268 [GRCh38] Chr5:140908835 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2178C>T (p.Ile726=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002828581]	Chr5:141573672 [GRCh38] Chr5:140953239 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002928975]	Chr5:141584104 [GRCh38] Chr5:140963671 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002700251]	Chr5:141575112 [GRCh38] Chr5:140954679 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3438+14A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002957517]	Chr5:141526283 [GRCh38] Chr5:140905850 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002851681]	Chr5:141574063 [GRCh38] Chr5:140953630 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+2T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002852123]	Chr5:141529601 [GRCh38] Chr5:140909168 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2663A>C (p.Glu888Ala)	single nucleotide variant	Inborn genetic diseases [RCV002743703]	Chr5:141529616 [GRCh38] Chr5:140909183 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002625159]	Chr5:141573820 [GRCh38] Chr5:140953387 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003059519]	Chr5:141529674 [GRCh38] Chr5:140909241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.846A>G (p.Ala282=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003082474]	Chr5:141579175 [GRCh38] Chr5:140958742 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002851080]	Chr5:141618829 [GRCh38] Chr5:140998396 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1737T>G (p.Arg579=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002766023]	Chr5:141574113 [GRCh38] Chr5:140953680 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002800792]\|not provided [RCV004725379]	Chr5:141578337 [GRCh38] Chr5:140957904 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1641+14A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002710105]	Chr5:141574953 [GRCh38] Chr5:140954520 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002626931]	Chr5:141573879..141573914 [GRCh38] Chr5:140953446..140953481 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002625848]	Chr5:141578258 [GRCh38] Chr5:140957825 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002790318]	Chr5:141618815 [GRCh38] Chr5:140998382 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-23_3274-18dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003084965]	Chr5:141526478..141526479 [GRCh38] Chr5:140906045..140906046 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002791273]	Chr5:141528507 [GRCh38] Chr5:140908074 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002875890]	Chr5:141575039 [GRCh38] Chr5:140954606 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002953997]	Chr5:141583590 [GRCh38] Chr5:140963157 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002643026]	Chr5:141587089 [GRCh38] Chr5:140966656 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3273+5C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003042574]	Chr5:141527568 [GRCh38] Chr5:140907135 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.978G>A (p.Glu326=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002894073]	Chr5:141578581 [GRCh38] Chr5:140958148 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3015T>C (p.Cys1005=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002931979]	Chr5:141528705 [GRCh38] Chr5:140908272 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.60C>G (p.Gly20=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002741302]	Chr5:141618855 [GRCh38] Chr5:140998422 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-22_1397-19del	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003042285]	Chr5:141576313..141576316 [GRCh38] Chr5:140955880..140955883 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+20A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002958109]	Chr5:141528433 [GRCh38] Chr5:140908000 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3594G>A (p.Val1198=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002710633]	Chr5:141524210 [GRCh38] Chr5:140903777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002624822]	Chr5:141574123 [GRCh38] Chr5:140953690 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002644397]	Chr5:141573979 [GRCh38] Chr5:140953546 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002917423]	Chr5:141524144 [GRCh38] Chr5:140903711 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002646448]	Chr5:141528947 [GRCh38] Chr5:140908514 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002651263]	Chr5:141516852 [GRCh38] Chr5:140896419 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003061913]	Chr5:141584236 [GRCh38] Chr5:140963803 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002720941]	Chr5:141573706 [GRCh38] Chr5:140953273 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-16T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002967195]	Chr5:141517024 [GRCh38] Chr5:140896591 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003065294]	Chr5:141573833 [GRCh38] Chr5:140953400 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.403-11C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003064980]	Chr5:141583626 [GRCh38] Chr5:140963193 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002833187]	Chr5:141580811 [GRCh38] Chr5:140960378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002671343]	Chr5:141575125 [GRCh38] Chr5:140954692 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002628850]	Chr5:141528792 [GRCh38] Chr5:140908359 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003049294]	Chr5:141588228 [GRCh38] Chr5:140967795 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003048472]	Chr5:141516977 [GRCh38] Chr5:140896544 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003028508]	Chr5:141527634..141527635 [GRCh38] Chr5:140907201..140907202 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002806442]	Chr5:141573990..141573991 [GRCh38] Chr5:140953557..140953558 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003046922]	Chr5:141587109 [GRCh38] Chr5:140966676 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+20C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003065606]	Chr5:141618778 [GRCh38] Chr5:140998345 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002629606]	Chr5:141576869 [GRCh38] Chr5:140956436 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.36C>T (p.Arg12=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002629949]	Chr5:141618879 [GRCh38] Chr5:140998446 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002899651]	Chr5:141528593 [GRCh38] Chr5:140908160 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.927A>T (p.Ala309=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003027821]	Chr5:141579094 [GRCh38] Chr5:140958661 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.717A>G (p.Glu239=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003027828]	Chr5:141580851 [GRCh38] Chr5:140960418 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2751G>T (p.Leu917=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002807098]	Chr5:141529199 [GRCh38] Chr5:140908766 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1724C>T (p.Ser575Phe)	single nucleotide variant	Inborn genetic diseases [RCV002855979]	Chr5:141574126 [GRCh38] Chr5:140953693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002895913]	Chr5:141529695 [GRCh38] Chr5:140909262 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-15_3149-14insG	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV002628335]	Chr5:141527711..141527712 [GRCh38] Chr5:140907278..140907279 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.892C>T (p.Leu298=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002807157]	Chr5:141579129 [GRCh38] Chr5:140958696 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002578723]\|not provided [RCV004790221]	Chr5:141528781 [GRCh38] Chr5:140908348 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003010234]	Chr5:141524153 [GRCh38] Chr5:140903720 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002922027]	Chr5:141576833 [GRCh38] Chr5:140956400 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1737T>C (p.Arg579=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002835021]	Chr5:141574113 [GRCh38] Chr5:140953680 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.41C>T (p.Thr14Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215950]\|Inborn genetic diseases [RCV002878725]	Chr5:141618874 [GRCh38] Chr5:140998441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2106C>T (p.Pro702=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002900537]	Chr5:141573744 [GRCh38] Chr5:140953311 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1044+9T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002627979]	Chr5:141578506 [GRCh38] Chr5:140958073 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003009911]	Chr5:141516852 [GRCh38] Chr5:140896419 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3574+15C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002600136]	Chr5:141526023 [GRCh38] Chr5:140905590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003046147]	Chr5:141574174 [GRCh38] Chr5:140953741 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.693C>T (p.Ile231=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002877554]	Chr5:141580875 [GRCh38] Chr5:140960442 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2799G>A (p.Leu933=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002856263]	Chr5:141528921 [GRCh38] Chr5:140908488 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.726A>G (p.Leu242=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002811376]	Chr5:141580842 [GRCh38] Chr5:140960409 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3231A>C (p.Pro1077=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002937409]	Chr5:141527615 [GRCh38] Chr5:140907182 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002810864]	Chr5:141526173 [GRCh38] Chr5:140905740 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2718G>T (p.Met906Ile)	single nucleotide variant	Inborn genetic diseases [RCV002669537]	Chr5:141529232 [GRCh38] Chr5:140908799 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003030233]	Chr5:141576860 [GRCh38] Chr5:140956427 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2064C>A (p.Pro688=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002895736]	Chr5:141573786 [GRCh38] Chr5:140953353 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777968]\|Inborn genetic diseases [RCV002935912]	Chr5:141618894 [GRCh38] Chr5:140998461 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2582-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002629310]	Chr5:141529708 [GRCh38] Chr5:140909275 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+7A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002806578]	Chr5:141579081 [GRCh38] Chr5:140958648 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002577477]	Chr5:141575095 [GRCh38] Chr5:140954662 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2719C>T (p.Leu907Phe)	single nucleotide variant	Inborn genetic diseases [RCV002669538]	Chr5:141529231 [GRCh38] Chr5:140908798 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3019-11_3019-10del	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003009912]	Chr5:141528592..141528593 [GRCh38] Chr5:140908159..140908160 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003028008]	Chr5:141577582 [GRCh38] Chr5:140957149 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002937836]	Chr5:141574004 [GRCh38] Chr5:140953571 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002647562]	Chr5:141527635 [GRCh38] Chr5:140907202 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002810204]	Chr5:141576811 [GRCh38] Chr5:140956378 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003031421]	Chr5:141580825 [GRCh38] Chr5:140960392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002676437]	Chr5:141574974 [GRCh38] Chr5:140954541 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002856552]	Chr5:141573668 [GRCh38] Chr5:140953235 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2967T>C (p.Ala989=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002876981]	Chr5:141528753 [GRCh38] Chr5:140908320 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003026818]	Chr5:141528742 [GRCh38] Chr5:140908309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002599576]	Chr5:141573629 [GRCh38] Chr5:140953196 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002603365]	Chr5:141571940 [GRCh38] Chr5:140951507 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634138]	Chr5:141573758 [GRCh38] Chr5:140953325 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003051624]	Chr5:141582350 [GRCh38] Chr5:140961917 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002725454]	Chr5:141573895 [GRCh38] Chr5:140953462 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002635310]	Chr5:141574978 [GRCh38] Chr5:140954545 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779-11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003067046]	Chr5:141528952 [GRCh38] Chr5:140908519 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002583735]	Chr5:141578238 [GRCh38] Chr5:140957805 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002584834]\|not provided [RCV004725534]	Chr5:141528523 [GRCh38] Chr5:140908090 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003069365]	Chr5:141526053 [GRCh38] Chr5:140905620 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002814746]	Chr5:141618858..141618860 [GRCh38] Chr5:140998425..140998427 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3205G>A (p.Val1069Met)	single nucleotide variant	not provided [RCV003129398]	Chr5:141527641 [GRCh38] Chr5:140907208 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634595]	Chr5:141582369..141582370 [GRCh38] Chr5:140961936..140961937 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.423C>T (p.Ser141=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002943544]	Chr5:141583595 [GRCh38] Chr5:140963162 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV002942871]	Chr5:141573697..141573699 [GRCh38] Chr5:140953264..140953266 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002653468]	Chr5:141573942 [GRCh38] Chr5:140953509 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+20C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002814440]	Chr5:141579068 [GRCh38] Chr5:140958635 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002585069]	Chr5:141534356 [GRCh38] Chr5:140913923 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003052535]	Chr5:141575132 [GRCh38] Chr5:140954699 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002721767]\|not provided [RCV003443072]	Chr5:141526121 [GRCh38] Chr5:140905688 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002606780]	Chr5:141528463 [GRCh38] Chr5:140908030 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2757G>A (p.Glu919=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634390]	Chr5:141529193 [GRCh38] Chr5:140908760 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2483-14C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002634402]	Chr5:141534447 [GRCh38] Chr5:140914014 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-13_3149-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003073497]	Chr5:141527700..141527710 [GRCh38] Chr5:140907267..140907277 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002585211]	Chr5:141574012 [GRCh38] Chr5:140953579 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3438+8dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV002589193]	Chr5:141526288..141526289 [GRCh38] Chr5:140905855..140905856 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3575-13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003072420]	Chr5:141524242 [GRCh38] Chr5:140903809 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1397-9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003093336]	Chr5:141576303 [GRCh38] Chr5:140955870 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002943402]	Chr5:141574012 [GRCh38] Chr5:140953579 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1600A>G (p.Lys534Glu)	single nucleotide variant	not provided [RCV004778295]	Chr5:141575008 [GRCh38] Chr5:140954575 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1512G>C (p.Lys504Asn)	single nucleotide variant	not provided [RCV003146082]	Chr5:141575096 [GRCh38] Chr5:140954663 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.92G>C (p.Gly31Ala)	single nucleotide variant	not provided [RCV003146085]	Chr5:141618823 [GRCh38] Chr5:140998390 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2294T>A (p.Phe765Tyr)	single nucleotide variant	not provided [RCV003225456]	Chr5:141573556 [GRCh38] Chr5:140953123 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777321]\|not provided [RCV003321388]	Chr5:141573547 [GRCh38] Chr5:140953114 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2236G>A (p.Gly746Ser)	single nucleotide variant	Inborn genetic diseases [RCV003357911]	Chr5:141573614 [GRCh38] Chr5:140953181 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778051]\|Inborn genetic diseases [RCV003362443]	Chr5:141528940 [GRCh38] Chr5:140908507 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1627C>G (p.Gln543Glu)	single nucleotide variant	Inborn genetic diseases [RCV003386383]	Chr5:141574981 [GRCh38] Chr5:140954548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792018]	Chr5:141516895 [GRCh38] Chr5:140896462 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2241G>A (p.Met747Ile)	single nucleotide variant	DIAPH1-related disorder [RCV003391627]	Chr5:141573609 [GRCh38] Chr5:140953176 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2474-16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791659]	Chr5:141571452 [GRCh38] Chr5:140951019 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+17T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790899]	Chr5:141528436 [GRCh38] Chr5:140908003 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1511del (p.Lys504fs)	deletion	DIAPH1-related disorder [RCV003404593]	Chr5:141575097 [GRCh38] Chr5:140954664 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1901C>T (p.Pro634Leu)	single nucleotide variant	DIAPH1-related disorder [RCV003412265]	Chr5:141573949 [GRCh38] Chr5:140953516 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3447C>G (p.Val1149=)	single nucleotide variant	not provided [RCV003429859]	Chr5:141526165 [GRCh38] Chr5:140905732 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778432]\|not provided [RCV003429860]	Chr5:141618903 [GRCh38] Chr5:140998470 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2143C>G (p.Pro715Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228030]\|DIAPH1-related disorder [RCV003417016]	Chr5:141573707 [GRCh38] Chr5:140953274 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795009]\|Inborn genetic diseases [RCV004981034]	Chr5:141576271 [GRCh38] Chr5:140955838 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807622]	Chr5:141571943 [GRCh38] Chr5:140951510 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797401]	Chr5:141573778..141573816 [GRCh38] Chr5:140953345..140953383 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2482+17G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794738]	Chr5:141571411 [GRCh38] Chr5:140950978 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789789]	Chr5:141526414 [GRCh38] Chr5:140905981 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792333]	Chr5:141577544 [GRCh38] Chr5:140957111 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3369C>T (p.Leu1123=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794823]	Chr5:141526366 [GRCh38] Chr5:140905933 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-15_3149-3dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797331]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+12_117+15del	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782083]	Chr5:141618783..141618786 [GRCh38] Chr5:140998350..140998353 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2007G>A (p.Leu669=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793681]	Chr5:141573843 [GRCh38] Chr5:140953410 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.621-15G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797478]	Chr5:141582390 [GRCh38] Chr5:140961957 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1461+6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797483]	Chr5:141576224 [GRCh38] Chr5:140955791 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797731]	Chr5:141574173 [GRCh38] Chr5:140953740 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790787]	Chr5:141529671 [GRCh38] Chr5:140909238 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805305]	Chr5:141529667 [GRCh38] Chr5:140909234 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794018]	Chr5:141529673 [GRCh38] Chr5:140909240 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797353]	Chr5:141576804 [GRCh38] Chr5:140956371 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782370]	Chr5:141573617 [GRCh38] Chr5:140953184 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807602]	Chr5:141526105 [GRCh38] Chr5:140905672 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797396]	Chr5:141526431 [GRCh38] Chr5:140905998 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+16C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796453]	Chr5:141587026 [GRCh38] Chr5:140966593 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1539T>G (p.Leu513=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795575]	Chr5:141575069 [GRCh38] Chr5:140954636 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3799T>C (p.Leu1267=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792973]	Chr5:141516871 [GRCh38] Chr5:140896438 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807727]	Chr5:141618867 [GRCh38] Chr5:140998434 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1311T>C (p.Cys437=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791668]	Chr5:141576841 [GRCh38] Chr5:140956408 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807981]	Chr5:141573634 [GRCh38] Chr5:140953201 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-9C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789089]	Chr5:141577600 [GRCh38] Chr5:140957167 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.255A>G (p.Gln85=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782890]	Chr5:141587087 [GRCh38] Chr5:140966654 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797116]	Chr5:141574108 [GRCh38] Chr5:140953675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-20T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791974]	Chr5:141587217 [GRCh38] Chr5:140966784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806178]	Chr5:141584183 [GRCh38] Chr5:140963750 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797671]	Chr5:141527663 [GRCh38] Chr5:140907230 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.685-7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785486]	Chr5:141580890 [GRCh38] Chr5:140960457 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.824+15T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003786526]	Chr5:141580729 [GRCh38] Chr5:140960296 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797563]\|DIAPH1-related disorder [RCV003981130]	Chr5:141580832 [GRCh38] Chr5:140960399 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1396+7A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793488]	Chr5:141576749 [GRCh38] Chr5:140956316 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797571]	Chr5:141529245 [GRCh38] Chr5:140908812 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804456]	Chr5:141587029 [GRCh38] Chr5:140966596 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781869]	Chr5:141618853 [GRCh38] Chr5:140998420 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793666]	Chr5:141580811 [GRCh38] Chr5:140960378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2778+2dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804527]	Chr5:141529169..141529170 [GRCh38] Chr5:140908736..140908737 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794385]	Chr5:141529670 [GRCh38] Chr5:140909237 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795002]\|Inborn genetic diseases [RCV004614527]	Chr5:141573847 [GRCh38] Chr5:140953414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1191C>G (p.Leu397=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789005]	Chr5:141577564 [GRCh38] Chr5:140957131 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.684+1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790985]	Chr5:141582311 [GRCh38] Chr5:140961878 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791025]	Chr5:141578541 [GRCh38] Chr5:140958108 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792208]	Chr5:141580828 [GRCh38] Chr5:140960395 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.300+17C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782692]	Chr5:141587025 [GRCh38] Chr5:140966592 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805300]	Chr5:141583584 [GRCh38] Chr5:140963151 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1642-19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784049]	Chr5:141574227 [GRCh38] Chr5:140953794 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1051C>A (p.Arg351=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787557]	Chr5:141578337 [GRCh38] Chr5:140957904 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791246]	Chr5:141573782 [GRCh38] Chr5:140953349 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792270]	Chr5:141578265 [GRCh38] Chr5:140957832 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+13G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804089]	Chr5:141529590 [GRCh38] Chr5:140909157 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+18C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795083]	Chr5:141618780 [GRCh38] Chr5:140998347 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.69A>C (p.Pro23=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784807]	Chr5:141618846 [GRCh38] Chr5:140998413 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-18T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795288]	Chr5:141527715 [GRCh38] Chr5:140907282 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.918C>T (p.Thr306=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790373]	Chr5:141579103 [GRCh38] Chr5:140958670 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3018+11G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793116]	Chr5:141528691 [GRCh38] Chr5:140908258 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1044+6A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804691]	Chr5:141578509 [GRCh38] Chr5:140958076 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3231A>G (p.Pro1077=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795189]	Chr5:141527615 [GRCh38] Chr5:140907182 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805416]	Chr5:141573664 [GRCh38] Chr5:140953231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806683]	Chr5:141575091 [GRCh38] Chr5:140954658 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.741C>G (p.Ala247=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782169]	Chr5:141580827 [GRCh38] Chr5:140960394 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3148+6G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805481]	Chr5:141528447 [GRCh38] Chr5:140908014 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784962]	Chr5:141576274 [GRCh38] Chr5:140955841 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791528]	Chr5:141573969 [GRCh38] Chr5:140953536 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1396+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796737]	Chr5:141576745 [GRCh38] Chr5:140956312 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784370]	Chr5:141584105 [GRCh38] Chr5:140963672 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787156]	Chr5:141587211 [GRCh38] Chr5:140966778 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+19C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790061]	Chr5:141618779 [GRCh38] Chr5:140998346 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785906]	Chr5:141529249 [GRCh38] Chr5:140908816 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788641]	Chr5:141583227 [GRCh38] Chr5:140962794 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780153]	Chr5:141584131 [GRCh38] Chr5:140963698 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796603]	Chr5:141526479 [GRCh38] Chr5:140906046 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782515]	Chr5:141534373 [GRCh38] Chr5:140913940 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795586]	Chr5:141584209 [GRCh38] Chr5:140963776 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-15_301-14del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796642]	Chr5:141584239..141584240 [GRCh38] Chr5:140963806..140963807 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2582-7C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792035]	Chr5:141529704 [GRCh38] Chr5:140909271 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1281-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003783871]	Chr5:141576877 [GRCh38] Chr5:140956444 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-18T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794592]	Chr5:141579214 [GRCh38] Chr5:140958781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785651]	Chr5:141583549 [GRCh38] Chr5:140963116 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2358+13_2358+16del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806540]	Chr5:141573476..141573479 [GRCh38] Chr5:140953043..140953046 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807217]	Chr5:141527592 [GRCh38] Chr5:140907159 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+5A>G	single nucleotide variant	not provided [RCV003490679]	Chr5:141576225 [GRCh38] Chr5:140955792 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2482+4A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794127]	Chr5:141571424 [GRCh38] Chr5:140950991 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787794]	Chr5:141587165..141587167 [GRCh38] Chr5:140966732..140966734 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780547]	Chr5:141528913 [GRCh38] Chr5:140908480 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2940C>G (p.Thr980=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780540]	Chr5:141528780 [GRCh38] Chr5:140908347 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2985T>C (p.Gly995=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796375]	Chr5:141528735 [GRCh38] Chr5:140908302 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794174]	Chr5:141526396 [GRCh38] Chr5:140905963 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780112]	Chr5:141516992 [GRCh38] Chr5:140896559 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790647]	Chr5:141584119 [GRCh38] Chr5:140963686 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795073]	Chr5:141528736 [GRCh38] Chr5:140908303 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805229]	Chr5:141528489 [GRCh38] Chr5:140908056 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794680]	Chr5:141587131 [GRCh38] Chr5:140966698 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.620+11C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795105]	Chr5:141583195 [GRCh38] Chr5:140962762 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2880C>T (p.Val960=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806666]	Chr5:141528840 [GRCh38] Chr5:140908407 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.534-9T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797066]	Chr5:141583301 [GRCh38] Chr5:140962868 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791244]	Chr5:141571973 [GRCh38] Chr5:140951540 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2061C>T (p.Ile687=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780245]	Chr5:141573789 [GRCh38] Chr5:140953356 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003784882]	Chr5:141576770 [GRCh38] Chr5:140956337 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3067T>C (p.Leu1023=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791376]	Chr5:141528534 [GRCh38] Chr5:140908101 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+19A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788089]	Chr5:141527554 [GRCh38] Chr5:140907121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+10A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794749]	Chr5:141576220 [GRCh38] Chr5:140955787 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3274-37TTGGTC[2]	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804879]	Chr5:141526481..141526486 [GRCh38] Chr5:140906048..140906053 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796503]	Chr5:141583236 [GRCh38] Chr5:140962803 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793239]	Chr5:141573949 [GRCh38] Chr5:140953516 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796872]	Chr5:141578270 [GRCh38] Chr5:140957837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807319]	Chr5:141583607 [GRCh38] Chr5:140963174 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.685-14C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003786855]	Chr5:141580897 [GRCh38] Chr5:140960464 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788156]	Chr5:141573835 [GRCh38] Chr5:140953402 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794280]	Chr5:141618830 [GRCh38] Chr5:140998397 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794294]	Chr5:141527629 [GRCh38] Chr5:140907196 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805518]	Chr5:141529192 [GRCh38] Chr5:140908759 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806412]	Chr5:141583611 [GRCh38] Chr5:140963178 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+2C>T	single nucleotide variant	not provided [RCV003489352]	Chr5:141579086 [GRCh38] Chr5:140958653 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1461+16C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790371]	Chr5:141576214 [GRCh38] Chr5:140955781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785499]	Chr5:141574030 [GRCh38] Chr5:140953597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.534-11G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785925]	Chr5:141583303 [GRCh38] Chr5:140962870 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785935]	Chr5:141528483 [GRCh38] Chr5:140908050 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780455]	Chr5:141574069 [GRCh38] Chr5:140953636 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825-20G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806055]	Chr5:141579216 [GRCh38] Chr5:140958783 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.402+17G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003783453]	Chr5:141584107 [GRCh38] Chr5:140963674 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3438+18G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003805645]	Chr5:141526279 [GRCh38] Chr5:140905846 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003786353]	Chr5:141528474 [GRCh38] Chr5:140908041 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.486C>G (p.Leu162=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807166]	Chr5:141583532 [GRCh38] Chr5:140963099 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787679]	Chr5:141583575 [GRCh38] Chr5:140963142 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-14G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785630]	Chr5:141572054 [GRCh38] Chr5:140951621 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.895C>T (p.Leu299=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795917]	Chr5:141579126 [GRCh38] Chr5:140958693 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003783289]\|Inborn genetic diseases [RCV004366509]	Chr5:141573998 [GRCh38] Chr5:140953565 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641+9T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782862]	Chr5:141574958 [GRCh38] Chr5:140954525 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793650]	Chr5:141584176 [GRCh38] Chr5:140963743 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781802]	Chr5:141526429 [GRCh38] Chr5:140905996 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789111]	Chr5:141571952 [GRCh38] Chr5:140951519 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792118]	Chr5:141573989..141573990 [GRCh38] Chr5:140953556..140953557 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788381]	Chr5:141573653 [GRCh38] Chr5:140953220 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788771]	Chr5:141577525 [GRCh38] Chr5:140957092 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780528]	Chr5:141580867 [GRCh38] Chr5:140960434 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793252]	Chr5:141577502 [GRCh38] Chr5:140957069 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791118]	Chr5:141527594 [GRCh38] Chr5:140907161 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2274T>G (p.Pro758=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787505]	Chr5:141573576 [GRCh38] Chr5:140953143 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781200]	Chr5:141618907 [GRCh38] Chr5:140998474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.934-16A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793776]	Chr5:141578641 [GRCh38] Chr5:140958208 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2604C>T (p.Arg868=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003779464]	Chr5:141529675 [GRCh38] Chr5:140909242 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792286]	Chr5:141576776 [GRCh38] Chr5:140956343 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787681]	Chr5:141529679 [GRCh38] Chr5:140909246 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.669T>C (p.Ala223=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003792464]	Chr5:141582327 [GRCh38] Chr5:140961894 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3529C>T (p.Leu1177=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793333]	Chr5:141526083 [GRCh38] Chr5:140905650 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.934-8T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793334]	Chr5:141578633 [GRCh38] Chr5:140958200 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.753T>A (p.Ala251=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804060]	Chr5:141580815 [GRCh38] Chr5:140960382 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-15A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781957]	Chr5:141574223 [GRCh38] Chr5:140953790 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780676]	Chr5:141578336 [GRCh38] Chr5:140957903 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003790062]	Chr5:141618811 [GRCh38] Chr5:140998378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3148+17T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003780086]	Chr5:141528436 [GRCh38] Chr5:140908003 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782674]	Chr5:141529252 [GRCh38] Chr5:140908819 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789338]\|Inborn genetic diseases [RCV004981027]	Chr5:141580853 [GRCh38] Chr5:140960420 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789356]	Chr5:141574133 [GRCh38] Chr5:140953700 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-14G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793943]	Chr5:141572054 [GRCh38] Chr5:140951621 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788216]	Chr5:141574228 [GRCh38] Chr5:140953795 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003804245]	Chr5:141574208 [GRCh38] Chr5:140953775 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1788T>C (p.Ile596=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003794191]	Chr5:141574062 [GRCh38] Chr5:140953629 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2172T>C (p.Pro724=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003781562]	Chr5:141573678 [GRCh38] Chr5:140953245 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788155]	Chr5:141527565 [GRCh38] Chr5:140907132 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003782344]\|Inborn genetic diseases [RCV004366575]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.534-14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003791948]	Chr5:141583306 [GRCh38] Chr5:140962873 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn)	indel	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788917]	Chr5:141526320..141526321 [GRCh38] Chr5:140905887..140905888 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1609C>T (p.Leu537=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003788302]	Chr5:141574999 [GRCh38] Chr5:140954566 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003793539]	Chr5:141575055 [GRCh38] Chr5:140954622 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800985]	Chr5:141573971 [GRCh38] Chr5:140953538 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810178]	Chr5:141618798 [GRCh38] Chr5:140998365 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-3C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801123]	Chr5:141582378 [GRCh38] Chr5:140961945 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801110]	Chr5:141575009 [GRCh38] Chr5:140954576 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.620+19T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797973]	Chr5:141583187 [GRCh38] Chr5:140962754 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-14G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808209]	Chr5:141517022 [GRCh38] Chr5:140896589 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+18_3574+22del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801205]	Chr5:141526016..141526020 [GRCh38] Chr5:140905583..140905587 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809365]	Chr5:141580879 [GRCh38] Chr5:140960446 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.825-9C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800184]	Chr5:141579205 [GRCh38] Chr5:140958772 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.534-8C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799039]	Chr5:141583300 [GRCh38] Chr5:140962867 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801349]	Chr5:141526057 [GRCh38] Chr5:140905624 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.198T>A (p.Ser66=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810405]	Chr5:141587144 [GRCh38] Chr5:140966711 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-8_3149-7insC	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798098]	Chr5:141527704..141527705 [GRCh38] Chr5:140907271..140907272 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1194A>G (p.Leu398=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798175]	Chr5:141577561 [GRCh38] Chr5:140957128 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799345]	Chr5:141573922 [GRCh38] Chr5:140953489 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+11_1044+16del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799434]	Chr5:141578499..141578504 [GRCh38] Chr5:140958066..140958071 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813655]	Chr5:141577535 [GRCh38] Chr5:140957102 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3492A>G (p.Arg1164=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799439]	Chr5:141526120 [GRCh38] Chr5:140905687 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.144+11T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798403]	Chr5:141588213 [GRCh38] Chr5:140967780 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812823]	Chr5:141587121 [GRCh38] Chr5:140966688 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812881]	Chr5:141529613 [GRCh38] Chr5:140909180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1642-14T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813690]	Chr5:141574222 [GRCh38] Chr5:140953789 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799629]	Chr5:141528564 [GRCh38] Chr5:140908131 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813036]	Chr5:141577519 [GRCh38] Chr5:140957086 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.904T>C (p.Leu302=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798577]	Chr5:141579117 [GRCh38] Chr5:140958684 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799660]	Chr5:141573931 [GRCh38] Chr5:140953498 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.144+2T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809923]	Chr5:141588222 [GRCh38] Chr5:140967789 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1530G>A (p.Glu510=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798655]	Chr5:141575078 [GRCh38] Chr5:140954645 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2359-13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798652]	Chr5:141572053 [GRCh38] Chr5:140951620 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800797]	Chr5:141579097 [GRCh38] Chr5:140958664 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808909]	Chr5:141526326 [GRCh38] Chr5:140905893 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3081T>C (p.Cys1027=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808911]	Chr5:141528520 [GRCh38] Chr5:140908087 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809987]	Chr5:141524215 [GRCh38] Chr5:140903782 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser)	inversion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800539]	Chr5:141528826..141528827 [GRCh38] Chr5:140908393..140908394 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003797907]	Chr5:141528878 [GRCh38] Chr5:140908445 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2676+12G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800580]	Chr5:141529591 [GRCh38] Chr5:140909158 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2581+12T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798453]	Chr5:141534323 [GRCh38] Chr5:140913890 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800586]	Chr5:141516961 [GRCh38] Chr5:140896528 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.486C>T (p.Leu162=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801996]	Chr5:141583532 [GRCh38] Chr5:140963099 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.279G>A (p.Leu93=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808687]	Chr5:141587063 [GRCh38] Chr5:140966630 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+18A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799582]	Chr5:141579070 [GRCh38] Chr5:140958637 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800106]	Chr5:141583551 [GRCh38] Chr5:140963118 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799483]	Chr5:141526053 [GRCh38] Chr5:140905620 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800061]	Chr5:141618847 [GRCh38] Chr5:140998414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817868]	Chr5:141529179 [GRCh38] Chr5:140908746 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808874]	Chr5:141573759 [GRCh38] Chr5:140953326 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3600C>T (p.Asp1200=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003818070]	Chr5:141524204 [GRCh38] Chr5:140903771 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801936]	Chr5:141573940 [GRCh38] Chr5:140953507 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-20T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809463]	Chr5:141517028 [GRCh38] Chr5:140896595 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809466]	Chr5:141578319 [GRCh38] Chr5:140957886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.403-4C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798196]	Chr5:141583619 [GRCh38] Chr5:140963186 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817688]	Chr5:141583549 [GRCh38] Chr5:140963116 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813111]	Chr5:141516959 [GRCh38] Chr5:140896526 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813228]	Chr5:141573538 [GRCh38] Chr5:140953105 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813299]	Chr5:141524169 [GRCh38] Chr5:140903736 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-6T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810548]	Chr5:141584231 [GRCh38] Chr5:140963798 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800922]	Chr5:141516997 [GRCh38] Chr5:140896564 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809530]	Chr5:141516964 [GRCh38] Chr5:140896531 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003810308]	Chr5:141618826 [GRCh38] Chr5:140998393 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809317]	Chr5:141573595 [GRCh38] Chr5:140953162 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800176]\|Inborn genetic diseases [RCV004614529]	Chr5:141584146 [GRCh38] Chr5:140963713 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.666A>G (p.Lys222=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817813]	Chr5:141582330 [GRCh38] Chr5:140961897 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812320]	Chr5:141527664 [GRCh38] Chr5:140907231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.533+18G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812447]	Chr5:141583467 [GRCh38] Chr5:140963034 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.381A>G (p.Gln127=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812450]	Chr5:141584145 [GRCh38] Chr5:140963712 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808825]	Chr5:141574124 [GRCh38] Chr5:140953691 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808840]	Chr5:141587184 [GRCh38] Chr5:140966751 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815700]	Chr5:141528502 [GRCh38] Chr5:140908069 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815746]\|not provided [RCV004780665]	Chr5:141584157 [GRCh38] Chr5:140963724 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808987]	Chr5:141584168 [GRCh38] Chr5:140963735 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815707]	Chr5:141573898 [GRCh38] Chr5:140953465 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801056]	Chr5:141618840 [GRCh38] Chr5:140998407 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1164-9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812500]	Chr5:141577600 [GRCh38] Chr5:140957167 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.708G>A (p.Glu236=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003817764]	Chr5:141580860 [GRCh38] Chr5:140960427 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3574+15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815556]	Chr5:141526023 [GRCh38] Chr5:140905590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799886]	Chr5:141573820..141573822 [GRCh38] Chr5:140953387..140953389 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.118-5C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809676]	Chr5:141588255 [GRCh38] Chr5:140967822 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809684]	Chr5:141580776 [GRCh38] Chr5:140960343 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003798435]	Chr5:141583591 [GRCh38] Chr5:140963158 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801229]	Chr5:141534423 [GRCh38] Chr5:140913990 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1281-13T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003799662]	Chr5:141576884 [GRCh38] Chr5:140956451 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800725]	Chr5:141573872 [GRCh38] Chr5:140953439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3662-19C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815737]	Chr5:141517027 [GRCh38] Chr5:140896594 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.300+19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809391]	Chr5:141587023 [GRCh38] Chr5:140966590 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1650G>A (p.Lys550=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812510]	Chr5:141574200 [GRCh38] Chr5:140953767 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003812641]	Chr5:141573587 [GRCh38] Chr5:140953154 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003801043]	Chr5:141573794 [GRCh38] Chr5:140953361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813164]	Chr5:141579182 [GRCh38] Chr5:140958749 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.699C>A (p.Thr233=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809644]	Chr5:141580869 [GRCh38] Chr5:140960436 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.933+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813061]	Chr5:141579072 [GRCh38] Chr5:140958639 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808110]	Chr5:141573872 [GRCh38] Chr5:140953439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-3T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813411]	Chr5:141527700 [GRCh38] Chr5:140907267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815280]	Chr5:141573563 [GRCh38] Chr5:140953130 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003809302]	Chr5:141583581 [GRCh38] Chr5:140963148 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003813613]	Chr5:141528874 [GRCh38] Chr5:140908441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003800183]	Chr5:141574972 [GRCh38] Chr5:140954539 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3297A>G (p.Glu1099=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802427]	Chr5:141526438 [GRCh38] Chr5:140906005 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803061]	Chr5:141577493 [GRCh38] Chr5:140957060 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803756]	Chr5:141576771 [GRCh38] Chr5:140956338 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.543A>G (p.Gln181=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803634]	Chr5:141583283 [GRCh38] Chr5:140962850 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803203]	Chr5:141575073 [GRCh38] Chr5:140954640 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3192A>G (p.Lys1064=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803259]	Chr5:141527654 [GRCh38] Chr5:140907221 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803836]	Chr5:141576844 [GRCh38] Chr5:140956411 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3662-9C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803481]	Chr5:141517017 [GRCh38] Chr5:140896584 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803633]	Chr5:141528907 [GRCh38] Chr5:140908474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803873]	Chr5:141579131 [GRCh38] Chr5:140958698 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802731]	Chr5:141579153 [GRCh38] Chr5:140958720 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803578]	Chr5:141579176 [GRCh38] Chr5:140958743 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1917C>T (p.Ile639=)	single nucleotide variant	DIAPH1-related disorder [RCV003939517]	Chr5:141573933 [GRCh38] Chr5:140953500 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802336]	Chr5:141618857 [GRCh38] Chr5:140998424 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802790]	Chr5:141573703 [GRCh38] Chr5:140953270 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802932]	Chr5:141529204 [GRCh38] Chr5:140908771 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803248]	Chr5:141578501 [GRCh38] Chr5:140958068 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2473+3G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803832]	Chr5:141571923 [GRCh38] Chr5:140951490 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803470]	Chr5:141529270 [GRCh38] Chr5:140908837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003803539]	Chr5:141575084 [GRCh38] Chr5:140954651 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802296]	Chr5:141587195 [GRCh38] Chr5:140966762 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1095T>C (p.Phe365=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802676]	Chr5:141578293 [GRCh38] Chr5:140957860 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003802831]	Chr5:141574116 [GRCh38] Chr5:140953683 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.23T>C (p.Leu8Pro)	single nucleotide variant	Inborn genetic diseases [RCV004373693]	Chr5:141618892 [GRCh38] Chr5:140998459 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3080G>A (p.Cys1027Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004373694]	Chr5:141528521 [GRCh38] Chr5:140908088 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.791C>A (p.Ser264Tyr)	single nucleotide variant	Auditory neuropathy spectrum disorder [RCV003984979]	Chr5:141580777 [GRCh38] Chr5:140960344 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.400G>T (p.Ala134Ser)	single nucleotide variant	Inborn genetic diseases [RCV004373695]	Chr5:141584126 [GRCh38] Chr5:140963693 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.887A>G (p.Gln296Arg)	single nucleotide variant	Inborn genetic diseases [RCV004373696]	Chr5:141579134 [GRCh38] Chr5:140958701 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.880C>T (p.Arg294Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220786]\|DIAPH1-related disorder [RCV003902206]	Chr5:141579141 [GRCh38] Chr5:140958708 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.439A>G (p.Met147Val)	single nucleotide variant	not provided [RCV004722050]	Chr5:141583579 [GRCh38] Chr5:140963146 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.-31C>G	single nucleotide variant	DIAPH1-related disorder [RCV003949243]	Chr5:141618945 [GRCh38] Chr5:140998512 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.974C>T (p.Ala325Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220882]\|Inborn genetic diseases [RCV004373697]	Chr5:141578585 [GRCh38] Chr5:140958152 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140998345)_(140998481_?)del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580515]	Chr5:140998345..140998481 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002797249]	Chr5:141528494 [GRCh38] Chr5:140908061 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002912453]	Chr5:141527613 [GRCh38] Chr5:140907180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003082554]	Chr5:141529217 [GRCh38] Chr5:140908784 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-16T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003007638]	Chr5:141527713 [GRCh38] Chr5:140907280 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3156T>C (p.Ala1052=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003040108]	Chr5:141527690 [GRCh38] Chr5:140907257 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3354G>A (p.Leu1118=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003006131]	Chr5:141526381 [GRCh38] Chr5:140905948 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV002828507]	Chr5:141573628 [GRCh38] Chr5:140953195 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003055846]	Chr5:141527643 [GRCh38] Chr5:140907210 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778862]\|not provided [RCV003146081]	Chr5:141573959 [GRCh38] Chr5:140953526 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003778863]\|not provided [RCV003146084]	Chr5:141574055 [GRCh38] Chr5:140953622 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003777417]\|not provided [RCV003334275]	Chr5:141534424 [GRCh38] Chr5:140913991 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003333826]\|Autosomal dominant nonsyndromic hearing loss 1 [RCV003777414]	Chr5:141529682 [GRCh38] Chr5:140909249 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1742C>T (p.Pro581Leu)	single nucleotide variant	Inborn genetic diseases [RCV003381007]	Chr5:141574108 [GRCh38] Chr5:140953675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2483-16162G>A	single nucleotide variant	not specified [RCV003489212]	Chr5:141550595 [GRCh38] Chr5:140930162 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.2025C>A (p.Ile675=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003807750]	Chr5:141573825 [GRCh38] Chr5:140953392 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787925]	Chr5:141575107 [GRCh38] Chr5:140954674 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.183G>A (p.Lys61=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003779448]	Chr5:141587159 [GRCh38] Chr5:140966726 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003796492]	Chr5:141574081 [GRCh38] Chr5:140953648 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795290]	Chr5:141528496 [GRCh38] Chr5:140908063 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003795482]	Chr5:141577550 [GRCh38] Chr5:140957117 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.132C>T (p.Leu44=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003806314]	Chr5:141588236 [GRCh38] Chr5:140967803 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.810G>T (p.Pro270=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003785095]	Chr5:141580758 [GRCh38] Chr5:140960325 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1689T>A (p.Ala563=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003789981]	Chr5:141574161 [GRCh38] Chr5:140953728 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3504C>T (p.Ala1168=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003787494]	Chr5:141526108 [GRCh38] Chr5:140905675 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003808214]	Chr5:141524143 [GRCh38] Chr5:140903710 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815391]	Chr5:141583536 [GRCh38] Chr5:140963103 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3574+5G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV003815393]	Chr5:141526033 [GRCh38] Chr5:140905600 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140967771)_(140967837_?)del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580516]	Chr5:140967771..140967837 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140896418)_(140998481_?)dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580517]	Chr5:140896418..140998481 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.9:g.(?_140953039)_(140954733_?)dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV004580518]	Chr5:140953039..140954733 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2954A>G (p.Asn985Ser)	single nucleotide variant	not provided [RCV004585895]	Chr5:141528766 [GRCh38] Chr5:140908333 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2407del (p.Glu803fs)	deletion	not provided [RCV004697527]	Chr5:141571992 [GRCh38] Chr5:140951559 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.620+170T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004698750]	Chr5:141583036 [GRCh38] Chr5:140962603 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3604C>T (p.Leu1202Phe)	single nucleotide variant	DIAPH1-related disorder [RCV004732354]	Chr5:141524200 [GRCh38] Chr5:140903767 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.244C>T (p.Gln82Ter)	single nucleotide variant	DIAPH1-related disorder [RCV004753986]	Chr5:141587098 [GRCh38] Chr5:140966665 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1170T>C (p.Phe390=)	single nucleotide variant	not provided [RCV004810502]	Chr5:141577585 [GRCh38] Chr5:140957152 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3273+6C>G	single nucleotide variant	not provided [RCV004792905]	Chr5:141527567 [GRCh38] Chr5:140907134 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1875_1876delinsAC (p.Cys626Arg)	indel	not provided [RCV004792906]	Chr5:141573974..141573975 [GRCh38] Chr5:140953541..140953542 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2186C>G (p.Pro729Arg)	single nucleotide variant	not provided [RCV004761399]		uncertain significance
NM_005219.5(DIAPH1):c.3662-1931C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004790046]	Chr5:141518939 [GRCh38] Chr5:140898506 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1212A>T (p.Ser404=)	single nucleotide variant	not provided [RCV004761710]		uncertain significance
NM_005219.5(DIAPH1):c.3613_3616del (p.Ala1205fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV004797111]	Chr5:141524188..141524191 [GRCh38] Chr5:140903755..140903758 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3613G>A (p.Ala1205Thr)	single nucleotide variant	not provided [RCV004760823]		uncertain significance
NM_005219.5(DIAPH1):c.3623C>T (p.Ser1208Leu)	single nucleotide variant	not provided [RCV004771245]	Chr5:141524181 [GRCh38] Chr5:140903748 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1943A>T (p.Asp648Val)	single nucleotide variant	not provided [RCV004771351]	Chr5:141573907 [GRCh38] Chr5:140953474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2188C>T (p.Pro730Ser)	single nucleotide variant	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV004764268]		likely pathogenic\|uncertain significance
NM_005219.5(DIAPH1):c.2527A>G (p.Lys843Glu)	single nucleotide variant	DIAPH1-related disorder [RCV004730530]	Chr5:141534389 [GRCh38] Chr5:140913956 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2054C>T (p.Ala685Val)	single nucleotide variant	not provided [RCV004775850]	Chr5:141573796 [GRCh38] Chr5:140953363 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3250G>A (p.Asp1084Asn)	single nucleotide variant	Inborn genetic diseases [RCV004981171]\|not provided [RCV004720127]	Chr5:141527596 [GRCh38] Chr5:140907163 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2155C>T (p.Pro719Ser)	single nucleotide variant	Inborn genetic diseases [RCV004976875]	Chr5:141573695 [GRCh38] Chr5:140953262 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.164T>G (p.Met55Arg)	single nucleotide variant	Inborn genetic diseases [RCV004976876]	Chr5:141587178 [GRCh38] Chr5:140966745 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1823C>T (p.Pro608Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212490]	Chr5:141574027 [GRCh38] Chr5:140953594 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.60C>T (p.Gly20=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215360]	Chr5:141618855 [GRCh38] Chr5:140998422 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3507G>A (p.Lys1169=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229247]	Chr5:141526105 [GRCh38] Chr5:140905672 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2482+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214511]	Chr5:141571423 [GRCh38] Chr5:140950990 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2359-15T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214960]	Chr5:141572055 [GRCh38] Chr5:140951622 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1163+8T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215209]	Chr5:141578217 [GRCh38] Chr5:140957784 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2815G>A (p.Ala939Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212774]	Chr5:141528905 [GRCh38] Chr5:140908472 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.822C>T (p.Asp274=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228258]	Chr5:141580746 [GRCh38] Chr5:140960313 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3652C>T (p.Pro1218Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214499]	Chr5:141524152 [GRCh38] Chr5:140903719 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+11C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214898]	Chr5:141579077 [GRCh38] Chr5:140958644 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+3G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215301]	Chr5:141618795 [GRCh38] Chr5:140998362 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1717CCT[1] (p.Pro574del)	microsatellite	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212311]	Chr5:141574128..141574130 [GRCh38] Chr5:140953695..140953697 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2103C>T (p.Pro701=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212333]	Chr5:141573747 [GRCh38] Chr5:140953314 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.121C>T (p.Leu41=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215163]	Chr5:141588247 [GRCh38] Chr5:140967814 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.405C>T (p.Gly135=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212541]	Chr5:141583613 [GRCh38] Chr5:140963180 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1396+15C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214097]	Chr5:141576741 [GRCh38] Chr5:140956308 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2677-10T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210789]	Chr5:141529283 [GRCh38] Chr5:140908850 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2581+17C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210865]	Chr5:141534318 [GRCh38] Chr5:140913885 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.899A>G (p.Asp300Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226138]	Chr5:141579122 [GRCh38] Chr5:140958689 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3019-7C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214174]	Chr5:141528589 [GRCh38] Chr5:140908156 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1065T>C (p.Asn355=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229000]	Chr5:141578323 [GRCh38] Chr5:140957890 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2829G>A (p.Lys943=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226345]	Chr5:141528891 [GRCh38] Chr5:140908458 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1783A>G (p.Ile595Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229153]	Chr5:141574067 [GRCh38] Chr5:140953634 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.480T>C (p.Pro160=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213052]	Chr5:141583538 [GRCh38] Chr5:140963105 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3366C>T (p.Phe1122=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228648]	Chr5:141526369 [GRCh38] Chr5:140905936 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1007G>A (p.Ser336Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215331]	Chr5:141578552 [GRCh38] Chr5:140958119 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2848G>A (p.Val950Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228951]	Chr5:141528872 [GRCh38] Chr5:140908439 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2779-10T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212429]	Chr5:141528951 [GRCh38] Chr5:140908518 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2108del (p.Pro703fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214818]	Chr5:141573742 [GRCh38] Chr5:140953309 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1327C>G (p.Leu443Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210518]	Chr5:141576825 [GRCh38] Chr5:140956392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1121A>G (p.Tyr374Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210598]	Chr5:141578267 [GRCh38] Chr5:140957834 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3149-3_3149-2insC	insertion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005227117]	Chr5:141527699..141527700 [GRCh38] Chr5:140907266..140907267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2358+6del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005225680]	Chr5:141573486 [GRCh38] Chr5:140953053 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.991C>T (p.Arg331Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210580]	Chr5:141578568 [GRCh38] Chr5:140958135 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.461C>T (p.Ser154Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210662]	Chr5:141583557 [GRCh38] Chr5:140963124 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.808C>T (p.Pro270Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226248]	Chr5:141580760 [GRCh38] Chr5:140960327 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2421G>A (p.Glu807=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209811]	Chr5:141571978 [GRCh38] Chr5:140951545 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.825-7T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226703]	Chr5:141579203 [GRCh38] Chr5:140958770 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3117C>G (p.Asp1039Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226997]	Chr5:141528484 [GRCh38] Chr5:140908051 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1281-3T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211336]	Chr5:141576874 [GRCh38] Chr5:140956441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005209946]	Chr5:141618785 [GRCh38] Chr5:140998352 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3490C>A (p.Arg1164=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210049]	Chr5:141526122 [GRCh38] Chr5:140905689 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3592G>A (p.Val1198Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212653]	Chr5:141524212 [GRCh38] Chr5:140903779 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3274-11C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210582]	Chr5:141526472 [GRCh38] Chr5:140906039 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.866T>C (p.Met289Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228217]	Chr5:141579155 [GRCh38] Chr5:140958722 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1684A>T (p.Met562Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005214015]	Chr5:141574166 [GRCh38] Chr5:140953733 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.786G>A (p.Leu262=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210929]	Chr5:141580782 [GRCh38] Chr5:140960349 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.807A>G (p.Leu269=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211071]	Chr5:141580761 [GRCh38] Chr5:140960328 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.63G>C (p.Arg21=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211123]	Chr5:141618852 [GRCh38] Chr5:140998419 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3040G>C (p.Asp1014His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228574]	Chr5:141528561 [GRCh38] Chr5:140908128 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2473+8C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226778]	Chr5:141571918 [GRCh38] Chr5:140951485 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2254C>G (p.Pro752Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211282]	Chr5:141573596 [GRCh38] Chr5:140953163 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3516del (p.Glu1173fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226382]	Chr5:141526096 [GRCh38] Chr5:140905663 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3416A>G (p.His1139Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226858]	Chr5:141526319 [GRCh38] Chr5:140905886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.145-13T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211266]	Chr5:141587210 [GRCh38] Chr5:140966777 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.301-14dup	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212846]	Chr5:141584238..141584239 [GRCh38] Chr5:140963805..140963806 [GRCh37] Chr5:5q31.3	benign
NM_005219.5(DIAPH1):c.3686T>A (p.Val1229Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005229156]	Chr5:141516984 [GRCh38] Chr5:140896551 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.370A>G (p.Met124Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212272]	Chr5:141584156 [GRCh38] Chr5:140963723 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2911G>C (p.Glu971Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210488]	Chr5:141528809 [GRCh38] Chr5:140908376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3656G>A (p.Arg1219His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005227148]	Chr5:141524148 [GRCh38] Chr5:140903715 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3438+12A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210736]	Chr5:141526285 [GRCh38] Chr5:140905852 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1450C>T (p.Leu484=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226360]	Chr5:141576241 [GRCh38] Chr5:140955808 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.72T>C (p.Asp24=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211122]	Chr5:141618843 [GRCh38] Chr5:140998410 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.145-17T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005228861]	Chr5:141587214 [GRCh38] Chr5:140966781 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.964A>G (p.Ile322Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005212493]	Chr5:141578595 [GRCh38] Chr5:140958162 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.897G>A (p.Leu299=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220269]	Chr5:141579124 [GRCh38] Chr5:140958691 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2139_2150dup (p.Pro719_Leu720insProProProPro)	duplication	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223741]	Chr5:141573699..141573700 [GRCh38] Chr5:140953266..140953267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.811C>T (p.Gln271Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216370]	Chr5:141580757 [GRCh38] Chr5:140960324 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.3226T>A (p.Phe1076Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218598]	Chr5:141527620 [GRCh38] Chr5:140907187 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1913C>G (p.Ala638Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215619]	Chr5:141573937 [GRCh38] Chr5:140953504 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3195A>C (p.Gln1065His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215726]	Chr5:141527651 [GRCh38] Chr5:140907218 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.30C>G (p.Pro10=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215738]	Chr5:141618885 [GRCh38] Chr5:140998452 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1559A>G (p.Lys520Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217965]	Chr5:141575049 [GRCh38] Chr5:140954616 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3092A>T (p.Tyr1031Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217988]	Chr5:141528509 [GRCh38] Chr5:140908076 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2153C>T (p.Pro718Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223991]	Chr5:141573697 [GRCh38] Chr5:140953264 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2174G>C (p.Gly725Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219047]	Chr5:141573676 [GRCh38] Chr5:140953243 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1461+8T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219800]	Chr5:141576222 [GRCh38] Chr5:140955789 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3747G>A (p.Lys1249=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223436]	Chr5:141516923 [GRCh38] Chr5:140896490 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.702G>T (p.Met234Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217872]	Chr5:141580866 [GRCh38] Chr5:140960433 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1182T>C (p.Phe394=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220586]	Chr5:141577573 [GRCh38] Chr5:140957140 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.745G>C (p.Asp249His)	single nucleotide variant	not provided [RCV005241875]	Chr5:141580823 [GRCh38] Chr5:140960390 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1750C>A (p.Pro584Thr)	single nucleotide variant	not provided [RCV005245410]	Chr5:141574100 [GRCh38] Chr5:140953667 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1343C>T (p.Ala448Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218892]	Chr5:141576809 [GRCh38] Chr5:140956376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3513G>A (p.Lys1171=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219171]	Chr5:141526099 [GRCh38] Chr5:140905666 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1888C>A (p.Pro630Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223817]	Chr5:141573962 [GRCh38] Chr5:140953529 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2015G>T (p.Gly672Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217288]	Chr5:141573835 [GRCh38] Chr5:140953402 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1557A>G (p.Glu519=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005221615]	Chr5:141575051 [GRCh38] Chr5:140954618 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3019-5C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217480]	Chr5:141528587 [GRCh38] Chr5:140908154 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3149-15_3149-3del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224162]	Chr5:141527700..141527712 [GRCh38] Chr5:140907267..140907279 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2230G>A (p.Gly744Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224311]	Chr5:141573620 [GRCh38] Chr5:140953187 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3378C>T (p.Pro1126=)	single nucleotide variant	not provided [RCV005234519]	Chr5:141526357 [GRCh38] Chr5:140905924 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1916T>C (p.Ile639Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215470]	Chr5:141573934 [GRCh38] Chr5:140953501 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1705G>A (p.Ala569Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215523]	Chr5:141574145 [GRCh38] Chr5:140953712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+8A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005222434]	Chr5:141578507 [GRCh38] Chr5:140958074 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2135G>A (p.Gly712Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216771]	Chr5:141573715 [GRCh38] Chr5:140953282 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1644T>A (p.Val548=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216821]	Chr5:141574206 [GRCh38] Chr5:140953773 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1563T>C (p.Asp521=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219066]	Chr5:141575045 [GRCh38] Chr5:140954612 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2198C>G (p.Pro733Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005221656]	Chr5:141573652 [GRCh38] Chr5:140953219 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3143G>C (p.Ser1048Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217261]	Chr5:141528458 [GRCh38] Chr5:140908025 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1280+14C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224675]	Chr5:141577461 [GRCh38] Chr5:140957028 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.117+19C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219135]	Chr5:141618779 [GRCh38] Chr5:140998346 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2676G>A (p.Gln892=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224479]	Chr5:141529603 [GRCh38] Chr5:140909170 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.49A>G (p.Lys17Glu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224545]	Chr5:141618866 [GRCh38] Chr5:140998433 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.219A>G (p.Ala73=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216352]	Chr5:141587123 [GRCh38] Chr5:140966690 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2615A>G (p.Gln872Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219174]	Chr5:141529664 [GRCh38] Chr5:140909231 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1874T>C (p.Val625Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220292]	Chr5:141573976 [GRCh38] Chr5:140953543 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1641+16G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220331]	Chr5:141574951 [GRCh38] Chr5:140954518 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1741C>G (p.Pro581Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223807]	Chr5:141574109 [GRCh38] Chr5:140953676 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2256A>G (p.Pro752=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005221586]	Chr5:141573594 [GRCh38] Chr5:140953161 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.722T>G (p.Ile241Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220480]	Chr5:141580846 [GRCh38] Chr5:140960413 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1947T>C (p.Ala649=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223842]	Chr5:141573903 [GRCh38] Chr5:140953470 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2821C>A (p.Leu941Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223859]	Chr5:141528899 [GRCh38] Chr5:140908466 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.650T>C (p.Ile217Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216500]	Chr5:141582346 [GRCh38] Chr5:140961913 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.301-20C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218235]	Chr5:141584245 [GRCh38] Chr5:140963812 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2553G>A (p.Val851=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220406]	Chr5:141534363 [GRCh38] Chr5:140913930 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.769A>G (p.Ile257Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220426]	Chr5:141580799 [GRCh38] Chr5:140960366 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1476A>G (p.Leu492=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216652]	Chr5:141575132 [GRCh38] Chr5:140954699 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.203A>G (p.His68Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224173]	Chr5:141587139 [GRCh38] Chr5:140966706 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2466G>T (p.Gln822His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216770]	Chr5:141571933 [GRCh38] Chr5:140951500 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.933+19A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218213]	Chr5:141579069 [GRCh38] Chr5:140958636 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2039C>G (p.Pro680Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217035]	Chr5:141573811 [GRCh38] Chr5:140953378 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2748C>T (p.Asp916=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218482]	Chr5:141529202 [GRCh38] Chr5:140908769 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.30del (p.Gly11fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217233]	Chr5:141618885 [GRCh38] Chr5:140998452 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.1280+8G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216328]	Chr5:141577467 [GRCh38] Chr5:140957034 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1394T>C (p.Ile465Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005224361]	Chr5:141576758 [GRCh38] Chr5:140956325 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.533+1G>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218609]	Chr5:141583484 [GRCh38] Chr5:140963051 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.2413C>T (p.Arg805Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216445]	Chr5:141571986 [GRCh38] Chr5:140951553 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1044+1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219746]	Chr5:141578514 [GRCh38] Chr5:140958081 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005219.5(DIAPH1):c.1450C>G (p.Leu484Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219632]	Chr5:141576241 [GRCh38] Chr5:140955808 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.908A>G (p.Lys303Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216507]	Chr5:141579113 [GRCh38] Chr5:140958680 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.255A>C (p.Gln85His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218699]	Chr5:141587087 [GRCh38] Chr5:140966654 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2696C>T (p.Pro899Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219808]	Chr5:141529254 [GRCh38] Chr5:140908821 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1177G>A (p.Val393Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217571]	Chr5:141577578 [GRCh38] Chr5:140957145 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.975G>T (p.Ala325=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005219880]	Chr5:141578584 [GRCh38] Chr5:140958151 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1961C>A (p.Pro654His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005222213]	Chr5:141573889 [GRCh38] Chr5:140953456 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.403-15A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223522]	Chr5:141583630 [GRCh38] Chr5:140963197 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1815T>C (p.Ser605=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215440]	Chr5:141574035 [GRCh38] Chr5:140953602 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.3273+4T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218814]	Chr5:141527569 [GRCh38] Chr5:140907136 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1609del (p.Leu537fs)	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215404]	Chr5:141574999 [GRCh38] Chr5:140954566 [GRCh37] Chr5:5q31.3	pathogenic
NM_005219.5(DIAPH1):c.2209G>A (p.Gly737Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215484]	Chr5:141573641 [GRCh38] Chr5:140953208 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2424C>T (p.Asn808=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005223541]	Chr5:141571975 [GRCh38] Chr5:140951542 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.2651C>T (p.Ala884Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217734]	Chr5:141529628 [GRCh38] Chr5:140909195 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.684+18C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005218954]	Chr5:141582294 [GRCh38] Chr5:140961861 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1163+6C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220042]	Chr5:141578219 [GRCh38] Chr5:140957786 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.189G>T (p.Lys63Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217843]	Chr5:141587153 [GRCh38] Chr5:140966720 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2180C>T (p.Pro727Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217849]	Chr5:141573670 [GRCh38] Chr5:140953237 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2453C>A (p.Thr818Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005215783]	Chr5:141571946 [GRCh38] Chr5:140951513 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.117+12T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005217877]	Chr5:141618786 [GRCh38] Chr5:140998353 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1149T>G (p.Ile383Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005220070]	Chr5:141578239 [GRCh38] Chr5:140957806 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3755A>C (p.Lys1252Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005216932]	Chr5:141516915 [GRCh38] Chr5:140896482 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3281T>A (p.Val1094Glu)	single nucleotide variant	Inborn genetic diseases [RCV004616248]	Chr5:141526454 [GRCh38] Chr5:140906021 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2237G>T (p.Gly746Val)	single nucleotide variant	Inborn genetic diseases [RCV004616246]	Chr5:141573613 [GRCh38] Chr5:140953180 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2041T>G (p.Leu681Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV004790103]	Chr5:141573809 [GRCh38] Chr5:140953376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1421T>G (p.Val474Gly)	single nucleotide variant	Inborn genetic diseases [RCV004976874]	Chr5:141576270 [GRCh38] Chr5:140955837 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.2027C>G (p.Pro676Arg)	single nucleotide variant	not provided [RCV005004070]	Chr5:141573823 [GRCh38] Chr5:140953390 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1484G>A (p.Arg495Gln)	single nucleotide variant	Inborn genetic diseases [RCV004976871]	Chr5:141575124 [GRCh38] Chr5:140954691 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.1760C>T (p.Pro587Leu)	single nucleotide variant	Inborn genetic diseases [RCV004976872]	Chr5:141574090 [GRCh38] Chr5:140953657 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1201G>A (p.Val401Met)	single nucleotide variant	Inborn genetic diseases [RCV004976873]	Chr5:141577554 [GRCh38] Chr5:140957121 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.81C>T (p.Pro27=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211121]	Chr5:141618834 [GRCh38] Chr5:140998401 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.685-18T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005210866]	Chr5:141580901 [GRCh38] Chr5:140960468 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.3002T>G (p.Ile1001Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005226142]	Chr5:141528718 [GRCh38] Chr5:140908285 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005219.5(DIAPH1):c.621-20_621-15del	deletion	Autosomal dominant nonsyndromic hearing loss 1 [RCV005211159]	Chr5:141582390..141582395 [GRCh38] Chr5:140961957..140961962 [GRCh37] Chr5:5q31.3	likely benign
NM_005219.5(DIAPH1):c.1641+13C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 1 [RCV005213826]	Chr5:141574954 [GRCh38] Chr5:140954521 [GRCh37] Chr5:5q31.3	likely benign

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	reproductive system	respiratory system
6	5	5	23	21	15	5	6	5	6	32	22	12	14	10


RefSeq Transcripts	XM_038490797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_038552916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_038616789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_038682253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_538749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_005367035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_005423942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_005434863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AAEX04000011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAAHUQ010000119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAAQRD010000003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAAUVH010000356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	REHQ01000011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCAFT00000003925 ⟹ ENSCAFP00000003627

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	11	55,471,329 - 55,817,945 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000060423 ⟹ ENSCAFP00000053002

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000065310 ⟹ ENSCAFP00000055824

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000071595 ⟹ ENSCAFP00000058292

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000078376 ⟹ ENSCAFP00000050823

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000085871 ⟹ ENSCAFP00000063223

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	11	55,470,197 - 55,817,945 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845012238 ⟹ ENSCAFP00845009568

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	11	56,580,523 - 56,927,865 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845012332 ⟹ ENSCAFP00845009639

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	11	56,580,523 - 56,927,865 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845012421 ⟹ ENSCAFP00845009710

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	11	56,580,523 - 56,927,865 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845012495 ⟹ ENSCAFP00845009761

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	11	56,580,652 - 56,927,865 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845012559 ⟹ ENSCAFP00845009809

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	11	56,580,652 - 56,927,865 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845012657 ⟹ ENSCAFP00845009876

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	11	56,580,652 - 56,927,865 (-)	Ensembl

RefSeq Acc Id:

XM_038490797 ⟹ XP_038346725

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UMICH_Zoey_3.1	11	55,076,468 - 55,431,616 (-)	NCBI

RefSeq Acc Id:

XM_038552916 ⟹ XP_038408844

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UU_Cfam_GSD_1.0	11	55,804,321 - 56,153,068 (-)	NCBI

RefSeq Acc Id:

XM_038616789 ⟹ XP_038472717

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UNSW_CanFamBas_1.0	11	55,107,840 - 55,455,961 (-)	NCBI

RefSeq Acc Id:

XM_038682253 ⟹ XP_038538181

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0	11	56,578,376 - 56,927,274 (-)	NCBI

RefSeq Acc Id:

XM_538749 ⟹ XP_538749

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1	11	55,469,327 - 55,817,930 (-)	NCBI
Dog10K_Boxer_Tasha	11	53,902,316 - 54,251,118 (-)	NCBI

Sequence:

show sequence

GCCCGCAGCCCGCGGCGCGGCATGGCTTCCCCGCGGAGCTCCGGGCAGCCCGGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCGCGCCTGCTGCTGCTCCTGCTGCTGCCGCTGCTGCTGCCGCT
GGCGCCCGGGGCCTGGGGCTGGGCGCGGGGTGCCCCCCGGCCGCCGCCCAGCAGCCCGCCGCTCTCCATCATGGGCCTCATGCCGCTCACCAAGGAGGTGGCCAAGGGCAGCATCGGGCGCGGCGTGC
TCCCCGCCGTGGAACTGGCCATCGAGCAGATCCGCAACGAGTCGCTGCTGCGCCCCTACTTCCTGGACCTGCGGCTCTACGACACCGAGTGTGATAATGCAAAAGGATTGAAAGCCTTCTACGATGCA
ATAAAATACGGGCCGAACCACTTGATGGTGTTTGGAGGAGTCTGTCCGTCGGTTACATCCATCATCGCGGAGTCCCTCCAAGGCTGGAATCTGGTGCAGCTTTCCTTTGCTGCCACCACGCCCGTCCT
AGCTGATAAGAAAAAATACCCTTATTTCTTTCGGACCGTGCCATCAGATAATGCGGTGAACCCAGCCATCCTGAAGCTGCTCAAGCATTACCAGTGGAAGCGAGTGGGCACGCTGACCCAAGACGTGC
AGAGGTTCTCTGAGGTGAGGAACGACCTGACTGGGGTTCTGTATGGTGAGGACATCGAGATTTCGGACACCGAGAGCTTCTCCAACGACCCCTGCACGAGTGTCAAAAAGCTGAAGGGCAATGACGTG
AGGATCATCCTCGGCCAGTTTGACCAGAATATGGCAGCAAAAGTGTTCTGTTGTGCCTATGAGGAGAACATGTATGGTAGCAAATACCAATGGATCATCCCGGGCTGGTATGAGCCTTCCTGGTGGGA
GCAGGTGCACACAGAAGCCAACTCATCCCGTTGTCTCCGGAAGAATCTGCTTGCTGCCATGGAGGGCTACATTGGCGTGGACTTCGAGCCCCTGAGCTCCAAGCAGATCAAGACCATCTCAGGAAAGA
CTCCACAGCAGTATGAGAGAGAGTACAACAACAAGCGGTCGGGCGTGGGGCCCAGCAAGTTCCATGGGTACGCCTACGATGGCATCTGGGTCATCGCCAAGACGCTGCAGAGGGCCATGGAGACACTG
CACGCCAGCAGTCGGCACCAGCGGATCCAGGATTTCAACTACACGGACCACACGCTGGGCAGGATCATCCTCAATGCCATGAATGAGACCAACTTCTTCGGGGTCACGGGTCAAGTTGTGTTCCGGAA
TGGGGAGAGAATGGGGACCATTAAATTTACTCAATTTCAAGACAGCAGGGAGGTGAAGGTGGGAGAGTACAACGCAGTGGCCGACACACTGGAGATCATCAATGACACTATCAGGTTCCAAGGATCCG
AACCACCAAAAGACAAGACCATCATCCTGGAGCAGCTCCGAAAGATCTCCCTACCCCTCTACAGCATCCTCTCTGCCCTCACCATCCTGGGGATGATCATGGCCAGCGCTTTCCTCTTCTTCAACATC
AAGAATCGGAATCAGAAGCTGATAAAGATGTCCAGTCCCTATATGAACAACCTCATTATCCTTGGAGGGATGCTCTCCTATGCATCGATATTTCTCTTTGGCCTTGATGGATCCTTTGTGTCTGAAAA
GACCTTCGAAACACTTTGCACTGTCAGGACCTGGATTCTCACCGTCGGCTACACAACCGCCTTTGGGGCAATGTTTGCAAAGACATGGAGGGTCCACGCCATCTTCAAAAATGTGAAAATGAAGAAGA
AGATCATCAAGGACCAGAAACTGCTGGTGATTGTCGGGGGCATGCTGCTGATCGACTTGTGCATCCTCATTTGCTGGCAGGCTGTCGATCCCCTGAGGAGGACAGTGGAGAGGTACAGCATGGAGCCG
GACCCAGCAGGACGGGACATCTCTATCCGCCCTCTCCTGGAGCACTGTGAGAACACCCACATGACCATCTGGCTTGGCATCGTCTATGCCTACAAGGGGCTTCTCATGTTGTTCGGTTGCTTCTTGGC
TTGGGAGACACGCAACGTCAGCATCCCTGCCCTCAACGACAGTAAGTACATCGGGATGAGCGTCTACAACGTGGGGATCATGTGCATCATTGGGGCCGCCGTCTCCTTCCTGACCCGGGACCAGCCCA
ACGTGCAGTTCTGCATCGTCGCCCTGGTCATCATCTTCTGCAGCACCATCACCCTCTGCCTGGTGTTCGTGCCCAAGCTTATCACTCTGAGAACAAACCCAGACGCAGCGACTCAGAACAGGCGATTC
CAGTTCACTCAGAATCAGAAGAAGGAAGATTCTAAAACGTCCACCTCAGTCACCAGCGTGAACCAAGCAAGCACGTCCCGCCTGGAGGGCCTGCAGTCTGAAAACCATCGCCTACGAATGAAGATCAC
AGAGCTGGATAAAGACTTGGAAGAGGTCACTATGCAGCTGCAGGACACACCAGAAAAGACCACGTACATTAAACAGAGCCACTACCAAGAGCTTAACGACATCCTCCACCTTGGGAACTTCACGGAGG
GCACAGATGGGGGAAAGGCCATTTTAAAAAATCACCTCGATCAAAATCCCCAGCTACAGTGGAACACAACAGAGCCCTCTCGAACATGCAAAGATCCTATAGAAGACATAAACTCCCCAGAACACATC
CAGCGCCGGCTGTCCCTCCAGCTCCCCATCCTCCACCACGCCTACCTCCCGTCCATCGGAGGCGTGGACGCCAGCTGTGTCAGCCCCTGCGTCAGCCCCACCGCCAGCCCCCGCCACAGACACGTGCC
ACCCTCCTTCCGAGTTATGGTCTCTGGCCTGTAAGGGTGGGAGGCCTGGGGCCGGGGCCTCCCCCATGACAGAACCACACGGAGCAGAGGCTACAGGAACGCTGTCAGCTCTGGCTGCGGAAAAGCTG
GGCGCCACGGCTGGCCTTGTGGGACTGCTCGATGGCACTCAGGTGGACAGGATGGGGGCACTTGGCACCTGACCTCGCGCCTTATTTGTGAAGTTTTTATTCTTTCACAAAGAAGAGGAATGGAAATG
ACTTCTTCCTTGATGTCTGCAAAGAAGGAGGAGCTGGGATATTGGAAACTTTGCAAAAAAAAAAAAAAAAAATCCTAGACAAGGAGAAAATCACTAGAACTCCAGCTAGAAGTCACCGAGTGTCCCTG
AGCAGCCTTGAGAAGAGGCGAGGGGCTTCTGGAGAAACCACCTCTGCCTCTGCACACACATCCCTGGCTGTGGGCCCCCGCCCCCCGCGGGCCAGCCCTTCTCCCCTCTGGGGAAGGAGGCGGGCAGG
GCAGCCAGGCCCCCAGCTGCCAGTCCAGCCAACCCCAGCCTTCCTGGAACAGGGAGTCTGCAGGGCAGCCAGGTGGCCCGAGGGCTGGGGTACGGGACCAGGCTGACTCACGTGCCTCCCGGTGGGAC
CTTACTCTCTGATAAATGCCACACATTAACACAATAACACCCGTTCTGGGACTGTGGGGATTTAGGGCACGTCACTGCAGACACGCTCTGCAGCAATCACTGACAGTCGGTCATGCACCCACCACGTT
GGCCACGTCCTTGTGTTTGTATCAGGTGTTCCAGTAATCAGGGGGACCACCCGAGCTAATCATGGAATGTCTGTTCCCAGCAAACACACTAAAGAAAGACTGTGCACTTTAACCTCTCATCAGGGCCC
AAGGGCTGGCTGGGGTTGTTTTTTTTCCACTGACTTTGTTTCTGACCAAAGTGAATGGGGCATTCTGCTAGAAGACATCCCTGTAGTCGTAGGGAGAGAGTTGCTAGCCAAGGGCTCCCCTTGGCTTC
CATCTGGACAAGCCAGGGAGCCCCCCCGCTTGGAGGTCACGGGGGTGACCTGTCAACACGCTGGTTCTCATTCATAAGATCACTCTTCCTTTTCAACCGAACCTCAGAGAGCACTGGCCTGGGCGCCA
GGCAAACCCAGGCTCAAGTCCTTACTCCATGGCTGACTCCCTCCATGACCTTGGGAAAGTCACTGGTGTCTCTCTGAGCCTGTTTCCCCTCCCCAACAAATTGGGGTTGGAATAACACCCGTCTCCTG
CCTACCTCACAGGGTCACTCTGAGGATCAAAACTTGATCTTGTCCAGGAAAGCTTCCTACCAAACAGTGAAGCAGCCCTGACCCATGAGGTATCAGGATGACCATGACCTTCGGCCCCCACGACCGCC
AGGGGTTTGGCCCAGAGAAGCTCCCAGCACAGCCCTCTACCAGGATAAGCTGGTGGAGAGAGGCTCCCGACGACTTTTGTGACATTCCTAGACAGGTTCGTTCTTTGCTTAAAGAAAGACCTGAATGA
CAGCGTCCAGGACGTCTGCACAACTGAGCGGTCGCTCACTCCCTAAAGAAACCTAATGGCAGCTTCAACAGGCAGGCAATAATCTCTTCCCAGACCACTGAAGTCAGGAATATACTGCTGTCACCACC
AGACTTTGACAAAAAGGGCCCACAGGAATCTTACCATCGCCAACATTTCAAAACACCCTCTTTCACGTAGCATAGCTCCCCCCTCCCCTCCCCCCCCAGAGAGGTTATGGAGGTACTGTAGCTTTTAG
GGAAAAAAAAATGTCAACACATCACAGGTCAAATTGAAGTCATTGTCTGTTTAGGCACTACGAATCTCGAATCTCGGTGTTGTCACTCACTGTGTATTACCAGTATTTACTTGCTTTCTTGATTTCAC
CAAAACCAGATTTAATTTAAAGGACCACGTTAATTTTTCCAAGGGAAGGAGACAATTCATTGTACATAATGTATACACACACAAAAAAAAAATATACCTGTAGAAATATTATTCCAGCATAGCAGGAA
ACAAAAAGAAACAAAAGTATTG

hide sequence

RefSeq Acc Id:

XR_005367035

Type:

NON-CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UU_Cfam_GSD_1.0	11	55,804,321 - 56,153,068 (-)	NCBI

RefSeq Acc Id:

XR_005423942

Type:

NON-CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
Dog10K_Boxer_Tasha	11	53,902,316 - 54,251,118 (-)	NCBI

RefSeq Acc Id:

XR_005434863

Type:

NON-CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0	11	56,578,376 - 56,927,274 (-)	NCBI


Protein RefSeqs	XP_038346725	(Get FASTA)	NCBI Sequence Viewer
	XP_038408844	(Get FASTA)	NCBI Sequence Viewer
	XP_038472717	(Get FASTA)	NCBI Sequence Viewer
	XP_038538181	(Get FASTA)	NCBI Sequence Viewer
	XP_538749	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCAFP00000003627.3
	ENSCAFP00000050823.2
	ENSCAFP00000053002.1
	ENSCAFP00000055824.2
	ENSCAFP00000058292.2
	ENSCAFP00000063223.2
	ENSCAFP00030006358.1
	ENSCAFP00845009568
	ENSCAFP00845009568.1
	ENSCAFP00845009639.1
	ENSCAFP00845009710.1
	ENSCAFP00845009761.1
	ENSCAFP00845009809.1
	ENSCAFP00845009876.1

RefSeq Acc Id:	XP_538749 ⟸ XM_538749
- Peptide Label:	isoform X1
- UniProtKB:	A0A8C0L2R1 (UniProtKB/TrEMBL), A0A8C0MC19 (UniProtKB/TrEMBL), A0A8I3MTR2 (UniProtKB/TrEMBL), A0A8C0L4K2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASPRSSGQPGPPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMGLMPLTKEVAKGSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDAIKYGPNH LMVFGGVCPSVTSIIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDNAVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSVKKLKGNDVRIILGQF DQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSSRCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYDGIWVIAKTLQRAMETLHASSRHQ RIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNGERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLPLYSILSALTILGMIMASAFLFFNIKNRNQKL IKMSSPYMNNLIILGGMLSYASIFLFGLDGSFVSEKTFETLCTVRTWILTVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVIVGGMLLIDLCILICWQAVDPLRRTVERYSMEPDPAGRDI SIRPLLEHCENTHMTIWLGIVYAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQFCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQK KEDSKTSTSVTSVNQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQSHYQELNDILHLGNFTEGTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQ LPILHHAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL hide sequence

Ensembl Acc Id:

ENSCAFP00000050823 ⟸ ENSCAFT00000078376

Ensembl Acc Id:

ENSCAFP00000053002 ⟸ ENSCAFT00000060423

Ensembl Acc Id:

ENSCAFP00000003627 ⟸ ENSCAFT00000003925

Ensembl Acc Id:

ENSCAFP00000055824 ⟸ ENSCAFT00000065310

Protein Domains

G-protein coupled receptors family 3 profile

Database	Acc Id	Source(s)
Ensembl Genes	ENSCAFG00000002487	Ensembl, UniProtKB/TrEMBL
	ENSCAFG00030003922	UniProtKB/TrEMBL
	ENSCAFG00845006883	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCAFT00000003925.5	UniProtKB/TrEMBL
	ENSCAFT00000060423.2	UniProtKB/TrEMBL
	ENSCAFT00000065310.2	UniProtKB/TrEMBL
	ENSCAFT00000071595.2	UniProtKB/TrEMBL
	ENSCAFT00000078376.2	UniProtKB/TrEMBL
	ENSCAFT00000085871.2	UniProtKB/TrEMBL
	ENSCAFT00030007252.1	UniProtKB/TrEMBL
	ENSCAFT00845012238	ENTREZGENE
	ENSCAFT00845012238.1	UniProtKB/TrEMBL
	ENSCAFT00845012332.1	UniProtKB/TrEMBL
	ENSCAFT00845012421.1	UniProtKB/TrEMBL
	ENSCAFT00845012495.1	UniProtKB/TrEMBL
	ENSCAFT00845012559.1	UniProtKB/TrEMBL
	ENSCAFT00845012657.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.2300	UniProtKB/TrEMBL
InterPro	ANF_lig-bd_rcpt	UniProtKB/TrEMBL
	GBR2_CC	UniProtKB/TrEMBL
	GPCR3_GABA-B	UniProtKB/TrEMBL
	GPCR_3	UniProtKB/TrEMBL
	GPCR_3_C	UniProtKB/TrEMBL
	GPCR_3_CS	UniProtKB/TrEMBL
	GPCR_3_GABA_rcpt_B2	UniProtKB/TrEMBL
	Peripla_BP_I	UniProtKB/TrEMBL
KEGG Report	cfa:481627	UniProtKB/TrEMBL
NCBI Gene	GABBR2	ENTREZGENE
PANTHER	GAMMA-AMINOBUTYRIC ACID TYPE B RECEPTOR SUBUNIT 2	UniProtKB/TrEMBL
	PTHR10519	UniProtKB/TrEMBL
Pfam	7tm_3	UniProtKB/TrEMBL
	ANF_receptor	UniProtKB/TrEMBL
	GBR2_CC	UniProtKB/TrEMBL
PRINTS	GABAB2RECPTR	UniProtKB/TrEMBL
	GABABRECEPTR	UniProtKB/TrEMBL
	GPCRMGR	UniProtKB/TrEMBL
PROSITE	G_PROTEIN_RECEP_F3_3	UniProtKB/TrEMBL
	G_PROTEIN_RECEP_F3_4	UniProtKB/TrEMBL
Superfamily-SCOP	Formin homology 2 domain (FH2 domain)	UniProtKB/TrEMBL
	SSF53822	UniProtKB/TrEMBL
UniProt	A0A8C0L2R1	ENTREZGENE
	A0A8C0L4K2	ENTREZGENE
	A0A8C0MC19	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I3MTR2	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I3N0W3_CANLF	UniProtKB/TrEMBL
	A0A8I3N4I2_CANLF	UniProtKB/TrEMBL
	A0A8I3N4S6_CANLF	UniProtKB/TrEMBL
	A0A8I3RTN8_CANLF	UniProtKB/TrEMBL
	A0A8I3RV61_CANLF	UniProtKB/TrEMBL
	A0A8P0P555_CANLF	UniProtKB/TrEMBL
	A0A8P0T3F6_CANLF	UniProtKB/TrEMBL
	A0A8P0T5H7_CANLF	UniProtKB/TrEMBL
	A0A8P0TA95_CANLF	UniProtKB/TrEMBL
	A0A8P0TEW8_CANLF	UniProtKB/TrEMBL
VGNC ID	VGNC:41049	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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