TTC34 (tetratricopeptide repeat domain 34)

Gene: TTC34 (tetratricopeptide repeat domain 34) Homo sapiens

Analyze

Symbol:

TTC34

Name:

tetratricopeptide repeat domain 34

RGD ID:

2293894

HGNC Page

HGNC:34297

Description:

ASSOCIATED WITH chromosome 1p36 deletion syndrome; dilated cardiomyopathy 1LL; Ehlers-Danlos syndrome spondylodysplastic type 2; INTERACTS WITH aflatoxin B1; benzo[e]pyrene; bisphenol A

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

tetratricopeptide repeat protein 34; TPR repeat protein 34; TPR repeat-containing protein ENSP00000383873

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

AL589743.2 LOC100421685

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	2,636,986 - 2,801,693 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	2,636,986 - 2,801,693 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,568,425 - 2,718,258 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,689,996 - 2,707,252 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	1,898,499 - 1,923,916 (-)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	1,852,084 - 1,875,285 (-)	NCBI		HuRef
HuRef	1	1,993,249 - 1,999,306 (-)	NCBI		HuRef
CHM1_1	1	2,559,861 - 2,649,648 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	2,078,230 - 2,301,463 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 1p36 deletion syndrome (IAGP)

dilated cardiomyopathy 1LL (IAGP)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

Goldberg-Shprintzen syndrome (IAGP)

immunodeficiency 16 (IAGP)

immunodeficiency 38 (IAGP)

Joubert syndrome 25 (IAGP)

Neurodevelopmental Disorders (IAGP)

Peroxisome Biogenesis Disorder, Complementation Group 7 (IAGP)

Shprintzen-Goldberg Craniosynostosis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

C60 fullerene (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

choline (ISO)

Cuprizon (ISO)

folic acid (ISO)

L-methionine (ISO)

methapyrilene (EXP)

ozone (EXP)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:16710414	PMID:21145461	PMID:35256949

Genomics

Comparative Map Data

TTC34
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	2,636,986 - 2,801,693 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	2,636,986 - 2,801,693 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,568,425 - 2,718,258 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,689,996 - 2,707,252 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	1,898,499 - 1,923,916 (-)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	1,852,084 - 1,875,285 (-)	NCBI		HuRef
HuRef	1	1,993,249 - 1,999,306 (-)	NCBI		HuRef
CHM1_1	1	2,559,861 - 2,649,648 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	2,078,230 - 2,301,463 (-)	NCBI		T2T-CHM13v2.0

Ttc34
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	154,921,871 - 154,951,582 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	154,921,916 - 154,951,584 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	154,837,308 - 154,867,125 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	154,837,459 - 154,867,127 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	154,230,309 - 154,241,236 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	153,700,148 - 153,710,924 (+)	NCBI		MGSCv36	mm8
Celera	4	157,122,995 - 157,139,547 (+)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	85.47	NCBI

Ttc34
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	170,693,410 - 170,711,215 (+)	NCBI		GRCr8
mRatBN7.2	5	165,411,063 - 165,428,864 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	165,411,058 - 165,428,857 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	5	172,253,257 - 172,271,056 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	172,259,520 - 172,269,213 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	175,714,925 - 175,724,963 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	171,658,968 - 171,668,759 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	171,643,843 - 171,679,156 (+)	NCBI
Celera	5	163,617,537 - 163,635,393 (+)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Ttc34
(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_004955486	8,620,516 - 8,631,399 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	8,620,609 - 8,633,069 (+)	NCBI	ChiLan1.0	ChiLan1.0

TTC34
(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	1	225,525,787 - 225,611,699 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	224,171,630 - 224,271,207 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	1,374,206 - 1,454,684 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	2,512,513 - 2,584,564 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

TTC34
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	57,470,807 - 57,481,874 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	57,473,001 - 57,490,971 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	57,483,646 - 57,503,595 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	57,673,967 - 57,693,869 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	57,674,238 - 57,694,631 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	57,665,271 - 57,685,129 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	57,557,583 - 57,577,444 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	57,947,361 - 57,967,296 (-)	NCBI		UU_Cfam_GSD_1.0

Ttc34
(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_024405058	28,502,832 - 28,531,358 (-)	NCBI		HiC_Itri_2

TTC34
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	64,478,408 - 64,499,986 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	64,478,117 - 64,499,034 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	59,035,533 - 59,050,394 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Ttc34
(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_004624818	7,427,787 - 7,447,303 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	7,435,250 - 7,447,905 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TTC34
43 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	copy number loss	See cases [RCV000050857]	Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3	copy number gain	See cases [RCV000051783]	Chr1:2659405..3273322 [GRCh38] Chr1:2590844..3189886 [GRCh37] Chr1:2580704..3179746 [NCBI36] Chr1:1p36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	copy number gain	See cases [RCV000052067]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	copy number loss	See cases [RCV000052068]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|See cases [RCV000052069]	Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	copy number loss	See cases [RCV000052070]	Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	copy number loss	See cases [RCV000052071]	Chr1:1482278..3152536 [GRCh38] Chr1:1417658..3069100 [GRCh37] Chr1:1407521..3058960 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	copy number loss	See cases [RCV000052073]	Chr1:2683403..4729121 [GRCh38] Chr1:2614842..4789181 [GRCh37] Chr1:2604702..4689041 [NCBI36] Chr1:1p36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|See cases [RCV000052016]	Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]\|See cases [RCV000053582]	Chr1:145601946..146009630 [GRCh38] Chr1:145425395..145987215 [GRCh37] Chr1:1q21.1	pathogenic
GRCh38/hg38 1p36.32(chr1:2701929-3319395)x1	copy number loss	See cases [RCV000133849]	Chr1:2701929..3319395 [GRCh38] Chr1:2633368..3235959 [GRCh37] Chr1:2623228..3225819 [NCBI36] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3	copy number gain	See cases [RCV000133635]	Chr1:2701929..3244518 [GRCh38] Chr1:2633368..3161082 [GRCh37] Chr1:2623228..3150942 [NCBI36] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3	copy number gain	See cases [RCV000134197]	Chr1:2563698..2689265 [GRCh38] Chr1:2495137..2620704 [GRCh37] Chr1:2488932..2610564 [NCBI36] Chr1:1p36.32	benign
GRCh38/hg38 1p36.32(chr1:2651321-2701929)x3	copy number gain	See cases [RCV000134204]	Chr1:2651321..2701929 [GRCh38] Chr1:2582760..2633368 [GRCh37] Chr1:1p36.32	benign
GRCh38/hg38 1p36.32(chr1:2651321-2701929)x1	copy number loss	See cases [RCV000134206]	Chr1:2651321..2701929 [GRCh38] Chr1:2582760..2633368 [GRCh37] Chr1:2572620..2623228 [NCBI36] Chr1:1p36.32	benign
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	copy number loss	See cases [RCV000134211]	Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.32(chr1:2659405-2673815)x3	copy number gain	See cases [RCV000134221]	Chr1:2659405..2673815 [GRCh38] Chr1:2590844..2605254 [GRCh37] Chr1:2580704..2595114 [NCBI36] Chr1:1p36.32	benign
GRCh38/hg38 1p36.32(chr1:2659405-2673815)x4	copy number gain	See cases [RCV000134222]	Chr1:2659405..2673815 [GRCh38] Chr1:2590844..2605254 [GRCh37] Chr1:1p36.32	benign
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3	copy number gain	See cases [RCV000135557]	Chr1:2778184..3528282 [GRCh38] Chr1:2694731..3444846 [GRCh37] Chr1:2684591..3434706 [NCBI36] Chr1:1p36.32	likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.32(chr1:2701912-3244554)x3	copy number gain	See cases [RCV000136012]	Chr1:2701912..3244554 [GRCh38] Chr1:2633351..3161118 [GRCh37] Chr1:2623211..3150978 [NCBI36] Chr1:1p36.32	likely benign
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	copy number loss	See cases [RCV000137380]	Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	copy number loss	See cases [RCV000138883]	Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	copy number gain	See cases [RCV000138951]	Chr1:1756301..3649513 [GRCh38] Chr1:1687740..3566077 [GRCh37] Chr1:1677600..3555937 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	copy number gain	See cases [RCV000139659]	Chr1:1330915..3743546 [GRCh38] Chr1:1266295..3660110 [GRCh37] Chr1:1256158..3649970 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	copy number loss	See cases [RCV000141227]	Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.32(chr1:2688448-3286320)x3	copy number gain	See cases [RCV000141721]	Chr1:2688448..3286320 [GRCh38] Chr1:2619887..3202884 [GRCh37] Chr1:2609747..3192744 [NCBI36] Chr1:1p36.32	conflicting data from submitters
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	copy number loss	See cases [RCV000142754]	Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	copy number loss	See cases [RCV000240189]	Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2628157-3202884)x3	copy number gain	See cases [RCV000449286]	Chr1:2628157..3202884 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2628037-3544272)x3	copy number gain	See cases [RCV000447500]	Chr1:2628037..3544272 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	copy number gain	See cases [RCV000447158]	Chr1:2609223..2631378 [GRCh37] Chr1:1p36.32-36.31	benign
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	copy number loss	See cases [RCV000511408]	Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	copy number loss	See cases [RCV000511834]	Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1	copy number loss	See cases [RCV000511946]	Chr1:1415800..5007235 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.32(chr1:2619887-3235416)x3	copy number gain	See cases [RCV000511215]	Chr1:2619887..3235416 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2443G>C (p.Asp815His)	single nucleotide variant	not specified [RCV004293746]	Chr1:2645347 [GRCh38] Chr1:2576786 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1	copy number loss	not provided [RCV000684537]	Chr1:2190850..3503606 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1	copy number loss	not provided [RCV000684538]	Chr1:2397432..2812958 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2419098-3222541)x3	copy number gain	not provided [RCV000684539]	Chr1:2419098..3222541 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2621576-3202884)x3	copy number gain	not provided [RCV000684540]	Chr1:2621576..3202884 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1	copy number loss	not provided [RCV000748814]	Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2566091-2785671)x1	copy number loss	not provided [RCV000748851]	Chr1:2566091..2785671 [GRCh37] Chr1:1p36.32	benign
GRCh37/hg19 1p36.32(chr1:2693695-2785671)x1	copy number loss	not provided [RCV000748852]	Chr1:2693695..2785671 [GRCh37] Chr1:1p36.32	benign
GRCh37/hg19 1p36.32(chr1:2700372-3208375)x3	copy number gain	not provided [RCV000748853]	Chr1:2700372..3208375 [GRCh37] Chr1:1p36.32	benign
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	copy number gain	not provided [RCV000767773]	Chr1:1471075..5831645 [GRCh37] Chr1:1p36.33-36.31	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV000856630]	Chr1:1723651..3444846 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del	deletion	Shprintzen-Goldberg syndrome [RCV000816642]	Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1	copy number loss	See cases [RCV000790598]	Chr1:2261222..5304873 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2469637-2628158)x3	copy number gain	not provided [RCV000847773]	Chr1:2469637..2628158 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_001242672.3(TTC34):c.2440A>C (p.Ile814Leu)	single nucleotide variant	not specified [RCV004300474]	Chr1:2645350 [GRCh38] Chr1:2576789 [GRCh37] Chr1:1p36.32	uncertain significance
NC_000001.10:g.(?_955543)_(3350385_?)del	deletion	Left ventricular noncompaction 8 [RCV001033604]	Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2582760-3177921)x3	copy number gain	See cases [RCV003236763]	Chr1:2582760..3177921 [GRCh37] Chr1:1p36.32	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	copy number gain	not provided [RCV002473692]	Chr1:2194087..4738355 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV001250754]	Chr1:1670720..3816863 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2694731-3190921)x3	copy number gain	Intellectual disability [RCV001251058]	Chr1:2694731..3190921 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV001535693]	Chr1:2420003..8155935 [GRCh37] Chr1:1p36.32-36.23	not provided
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.32(chr1:2701630-3003490)x3	copy number gain	not provided [RCV001827861]	Chr1:2701630..3003490 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del	deletion	Left ventricular noncompaction 8 [RCV002004579]	Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	copy number loss	not provided [RCV001829223]	Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
NC_000001.10:g.(?_955553)_(3350375_?)del	deletion	Left ventricular noncompaction 8 [RCV001955735]	Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	copy number loss	not provided [RCV002474579]	Chr1:2173570..5023430 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2621577-3021311)x3	copy number gain	not provided [RCV002474975]	Chr1:2621577..3021311 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2628158-3191234)x3	copy number gain	not provided [RCV002474802]	Chr1:2628158..3191234 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001242672.3(TTC34):c.2191C>T (p.Arg731Trp)	single nucleotide variant	not specified [RCV004286730]	Chr1:2783644 [GRCh38] Chr1:2700189 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2813G>T (p.Cys938Phe)	single nucleotide variant	not specified [RCV004182639]	Chr1:2641795 [GRCh38] Chr1:2573234 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1697G>A (p.Arg566His)	single nucleotide variant	not specified [RCV004119394]	Chr1:2787638 [GRCh38] Chr1:2704203 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1993G>A (p.Gly665Arg)	single nucleotide variant	not specified [RCV004242255]	Chr1:2785885 [GRCh38] Chr1:2702450 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2056G>A (p.Ala686Thr)	single nucleotide variant	not specified [RCV004232281]	Chr1:2785822 [GRCh38] Chr1:2702387 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1558C>G (p.Arg520Gly)	single nucleotide variant	not specified [RCV004218879]	Chr1:2789573 [GRCh38] Chr1:2706138 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2096G>A (p.Arg699His)	single nucleotide variant	not specified [RCV004124579]	Chr1:2783739 [GRCh38] Chr1:2700284 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3140C>T (p.Ala1047Val)	single nucleotide variant	not specified [RCV004232534]	Chr1:2641468 [GRCh38] Chr1:2572907 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2056G>T (p.Ala686Ser)	single nucleotide variant	not specified [RCV004158033]	Chr1:2785822 [GRCh38] Chr1:2702387 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1805G>A (p.Arg602Gln)	single nucleotide variant	not specified [RCV004215471]	Chr1:2787530 [GRCh38] Chr1:2704095 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3176G>A (p.Arg1059His)	single nucleotide variant	not specified [RCV004201881]	Chr1:2641432 [GRCh38] Chr1:2572871 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3064G>T (p.Ala1022Ser)	single nucleotide variant	not specified [RCV004153256]	Chr1:2641544 [GRCh38] Chr1:2572983 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2155C>T (p.Arg719Trp)	single nucleotide variant	not specified [RCV004087151]	Chr1:2783680 [GRCh38] Chr1:2700225 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2717C>T (p.Ala906Val)	single nucleotide variant	not specified [RCV004199735]	Chr1:2641891 [GRCh38] Chr1:2573330 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3205C>T (p.Arg1069Trp)	single nucleotide variant	not specified [RCV004241756]	Chr1:2641403 [GRCh38] Chr1:2572842 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1912G>A (p.Val638Ile)	single nucleotide variant	not specified [RCV004109484]	Chr1:2785966 [GRCh38] Chr1:2702531 [GRCh37] Chr1:1p36.32	likely benign
NM_001242672.3(TTC34):c.1603A>G (p.Thr535Ala)	single nucleotide variant	not specified [RCV004080847]	Chr1:2789528 [GRCh38] Chr1:2706093 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2927G>A (p.Arg976Gln)	single nucleotide variant	not specified [RCV004101404]	Chr1:2641681 [GRCh38] Chr1:2573120 [GRCh37] Chr1:1p36.32	likely benign
NM_001242672.3(TTC34):c.2095C>T (p.Arg699Cys)	single nucleotide variant	not specified [RCV004191216]	Chr1:2783740 [GRCh38] Chr1:2700285 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2926C>T (p.Arg976Trp)	single nucleotide variant	not specified [RCV004182527]	Chr1:2641682 [GRCh38] Chr1:2573121 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2291G>A (p.Arg764His)	single nucleotide variant	not specified [RCV004189695]	Chr1:2645499 [GRCh38] Chr1:2576938 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2696G>A (p.Arg899Gln)	single nucleotide variant	not specified [RCV004222379]	Chr1:2644280 [GRCh38] Chr1:2575719 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2276T>C (p.Val759Ala)	single nucleotide variant	not specified [RCV004078212]	Chr1:2645514 [GRCh38] Chr1:2576953 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2702G>A (p.Ser901Asn)	single nucleotide variant	not specified [RCV004290461]	Chr1:2644274 [GRCh38] Chr1:2575713 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.32(chr1:2518272-4413203)	copy number gain	Anomalous pulmonary venous return [RCV003223566]	Chr1:2518272..4413203 [GRCh38] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2690C>T (p.Ser897Leu)	single nucleotide variant	not specified [RCV004283126]	Chr1:2644286 [GRCh38] Chr1:2575725 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1736T>C (p.Leu579Pro)	single nucleotide variant	not specified [RCV004248806]	Chr1:2787599 [GRCh38] Chr1:2704164 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3048C>G (p.Cys1016Trp)	single nucleotide variant	not specified [RCV004255814]	Chr1:2641560 [GRCh38] Chr1:2572999 [GRCh37] Chr1:1p36.32	likely benign
NM_001242672.3(TTC34):c.2263G>C (p.Gly755Arg)	single nucleotide variant	not specified [RCV004261820]	Chr1:2645527 [GRCh38] Chr1:2576966 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1888G>A (p.Ala630Thr)	single nucleotide variant	not specified [RCV004260314]	Chr1:2785990 [GRCh38] Chr1:2702555 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2129C>G (p.Ala710Gly)	single nucleotide variant	not specified [RCV004279807]	Chr1:2783706 [GRCh38] Chr1:2700251 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV003226604]	Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	copy number loss	Chromosome 1p36 deletion syndrome [RCV003319574]	Chr1:1957148..6553454 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_001242672.3(TTC34):c.2138A>G (p.Asp713Gly)	single nucleotide variant	not specified [RCV004288777]	Chr1:2783697 [GRCh38] Chr1:2700242 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2927G>T (p.Arg976Leu)	single nucleotide variant	not specified [RCV004282582]	Chr1:2641681 [GRCh38] Chr1:2573120 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1739A>G (p.Glu580Gly)	single nucleotide variant	not specified [RCV004354494]	Chr1:2787596 [GRCh38] Chr1:2704161 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2930C>T (p.Ala977Val)	single nucleotide variant	not specified [RCV004350891]	Chr1:2641678 [GRCh38] Chr1:2573117 [GRCh37] Chr1:1p36.32	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	copy number gain	not provided [RCV003484001]	Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	copy number gain	not provided [RCV003484004]	Chr1:1687675..3638712 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	copy number gain	not provided [RCV003483999]	Chr1:1089596..2607016 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	copy number loss	not provided [RCV003483005]	Chr1:2694517..4317372 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_001242672.3(TTC34):c.1911C>T (p.Asp637=)	single nucleotide variant	not provided [RCV003412692]	Chr1:2785967 [GRCh38] Chr1:2702532 [GRCh37] Chr1:1p36.32	likely benign
NM_001242672.3(TTC34):c.1362C>G (p.Arg454=)	single nucleotide variant	not provided [RCV003412693]	Chr1:2789769 [GRCh38] Chr1:2706334 [GRCh37] Chr1:1p36.32	likely benign
NM_001242672.3(TTC34):c.60G>A (p.Ala20=)	single nucleotide variant	not provided [RCV003412694]	Chr1:2800768 [GRCh38] Chr1:2717333 [GRCh37] Chr1:1p36.32	likely benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	copy number loss	not specified [RCV003986795]	Chr1:1959612..5471235 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_001242672.3(TTC34):c.1639G>T (p.Gly547Cys)	single nucleotide variant	not specified [RCV004479193]	Chr1:2787696 [GRCh38] Chr1:2704261 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2572C>T (p.Arg858Trp)	single nucleotide variant	not specified [RCV004479194]	Chr1:2644404 [GRCh38] Chr1:2575843 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1642G>A (p.Val548Met)	single nucleotide variant	not specified [RCV004479195]	Chr1:2787693 [GRCh38] Chr1:2704258 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2620A>G (p.Arg874Gly)	single nucleotide variant	not specified [RCV004479196]	Chr1:2644356 [GRCh38] Chr1:2575795 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2683G>A (p.Glu895Lys)	single nucleotide variant	not specified [RCV004479197]	Chr1:2644293 [GRCh38] Chr1:2575732 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2713G>A (p.Ala905Thr)	single nucleotide variant	not specified [RCV004479199]	Chr1:2641895 [GRCh38] Chr1:2573334 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2806A>C (p.Ser936Arg)	single nucleotide variant	not specified [RCV004479200]	Chr1:2641802 [GRCh38] Chr1:2573241 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2863C>T (p.Arg955Trp)	single nucleotide variant	not specified [RCV004479201]	Chr1:2641745 [GRCh38] Chr1:2573184 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2953C>G (p.Arg985Gly)	single nucleotide variant	not specified [RCV004479202]	Chr1:2641655 [GRCh38] Chr1:2573094 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3077G>A (p.Arg1026His)	single nucleotide variant	not specified [RCV004479203]	Chr1:2641531 [GRCh38] Chr1:2572970 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.3081G>C (p.Met1027Ile)	single nucleotide variant	not specified [RCV004479204]	Chr1:2641527 [GRCh38] Chr1:2572966 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1706C>T (p.Ala569Val)	single nucleotide variant	not specified [RCV004479206]	Chr1:2787629 [GRCh38] Chr1:2704194 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1924G>A (p.Glu642Lys)	single nucleotide variant	not specified [RCV004479207]	Chr1:2785954 [GRCh38] Chr1:2702519 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1931G>A (p.Arg644Gln)	single nucleotide variant	not specified [RCV004479208]	Chr1:2785947 [GRCh38] Chr1:2702512 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.1979G>A (p.Arg660Gln)	single nucleotide variant	not specified [RCV004479209]	Chr1:2785899 [GRCh38] Chr1:2702464 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2173G>A (p.Val725Met)	single nucleotide variant	not specified [RCV004479210]	Chr1:2783662 [GRCh38] Chr1:2700207 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2290C>T (p.Arg764Cys)	single nucleotide variant	not specified [RCV004479211]	Chr1:2645500 [GRCh38] Chr1:2576939 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2320A>T (p.Ile774Phe)	single nucleotide variant	not specified [RCV004479212]	Chr1:2645470 [GRCh38] Chr1:2576909 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2450G>A (p.Gly817Glu)	single nucleotide variant	not specified [RCV004479213]	Chr1:2645340 [GRCh38] Chr1:2576779 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2506G>C (p.Glu836Gln)	single nucleotide variant	not specified [RCV004479214]	Chr1:2644470 [GRCh38] Chr1:2575909 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001242672.3(TTC34):c.2513C>G (p.Ala838Gly)	single nucleotide variant	not specified [RCV004479215]	Chr1:2644463 [GRCh38] Chr1:2575902 [GRCh37] Chr1:1p36.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1438
Count of miRNA genes:	759
Interacting mature miRNAs:	886
Transcripts:	ENST00000401094, ENST00000401095, ENST00000574621, ENST00000579787
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

267

Low

512

911

1105

120

646

1756

171

2599

226

906

1273

552

1118

Below cutoff

1897

2058

556

452

1250

385

2543

1976

1103

178

256

294

652

1634

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001242672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_016999990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	ABBA01156803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC234231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC242022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL592464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL831784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DY655627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000401095 ⟹ ENSP00000383873

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,636,986 - 2,801,693 (-)	Ensembl

RefSeq Acc Id:

ENST00000637179 ⟹ ENSP00000490537

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	2,641,368 - 2,789,665 (-)	Ensembl

RefSeq Acc Id:

NM_001242672 ⟹ NP_001229601

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	2,636,986 - 2,801,693 (-)	NCBI
GRCh37	1	2,572,807 - 2,706,230 (-)	ENTREZGENE
HuRef	1	1,852,084 - 1,875,285 (-)	ENTREZGENE
HuRef	1	1,993,249 - 1,999,306 (-)	NCBI
CHM1_1	1	2,559,861 - 2,649,648 (-)	NCBI
T2T-CHM13v2.0	1	2,078,230 - 2,301,463 (-)	NCBI

Sequence:

show sequence

GTACTCTGAGGACCAGACATGGGCCCGTCGGGGTCCCAGACATGATGTCAGCCCAGGAGCTCGT
GGCCTGCCTCTGCCGGGAGGGGGAGCAGCATCTGGCGCTGGGGGAGCTGCCCCTGGCCACCGCC
TTCTACCTGGCTGCATTCAGCTGCCACGCCCCCTCAGCCCTGCAGAGTGTGCGCACTGCCCTGG
CCCAGGCTCGGGGGGCGGCGGTGGTGGCCACCCTGGAGTCCTGGTGCCGCGGGGACAGCCAGAT
CCCCGCCATCCACTGGGACGGCATGGCAGTGGTCTCCCTGACAGGGTCGCTGGCCTCTGCCTTC
CTCGGCGCCCTCTGCCCGGACCACCCCGCCGCCATCCTGCACCTGCTGGCAGGTCTGCTGGCCC
GCGGGCGTCACGAAGAAGTGGTGCAACGCTGCAGCGCCCTGCTGGACTCTCATGCACAGCAAGT
CCTGGAGCTGCGGCTGACCCGCGCCCTCGCCTGGGTCCTGTCCGGGGTGCAGGCAGCGGATGGT
GTGGCCGCCTATCTCCAGGCCTTCGCCTCCAGCGCCGACCGGACGGTAGCTTTCATTCGCACCC
ACCAGCGGCCCCACCTCCCCGCGCTGCTCAGTGCCCTCCAGGACTACCTCTCGGGGCACCCGGA
GGCTGGGCACAGTGCCGGCCAGCAGGAGACCGGTGGCCAGCGACTCCTGGCGGCTCTGGACCCC
AGGGGCACCCGGAGTGACACCCTGTCACCTGAAGCTCTGCTCCACAGCGGCAGGTTTGAGGACT
GCCTGGCAGCATGCAGCCGGGCCCTCGAGGCCCATCCCACCGGCAGCGAACCCCAAGGTGAGCG
CCGAGCCGCCCTGCTGGTCACCCGCGCGGCCTCGGCCTTCTTCCTGGACGGCCGGGCCCAGGAC
GTGTTTTGGAACCTGCAGGAGGCCTTCCGCGAGAGCCCCTCTGGGGCGCGGAGGCAGTTCCAGG
CCGTGTTCTCTGTCCAGGACCAGGAGCGCGTCCGGGCTCAGGCGCAGGAGGCCGCGGACGTGGG
CTTCGCCCGCTTCCAGGAAGCCGTGCGGAACCACCCTGAGCTCCGCGAGGATGCGGGCCGCGAG
CTGCTGGCCCCGGTAACCCGCGCGCTCCGCGTCCTGCTTCGCCTGGCGCCTGCCGGGGCGCGAC
CCGCGCTGGGAGCCCGCCTCGCCGAGTGCCTGCTGCTGGCAGGGGACGCGGCGGGCGCCCGGGC
CATGTGCGAGCGCCTGCTGCGGCCCGCACGCCCTGAGGACCCTGCGGGGGACCGTGCAGGGGAC
CGCGCACCTCTCCTGGCTCTGCGCGGCTTCTGCGCGCTGCACGCCGGGGACTCGCGGCGCGCCA
TGGAGGACTTCCAGACGGTAGTGGAGCAGGGGGCGCCGCACCCGGGGGGCTGTGTGCGCGCGCT
GTGCGGCCGGGGACTGCTGCGGGTGCTGGCGGGCAGCGCGTTCCTGGGCACGCTGGACTATGTC
ACCGCCTGCAGGCTGCGGCCCGAGGAGGCGCTGCTGGCCGCCAAGGCCTACGTGCCCTGGAACC
AGCGGGGGCTGCTGCTGGTGGTGCTGCGGGAGGAGGCCCGTGGGATGCTGCAGCGATCTCCACG
CGCCGGGCCGTCCAGAGCGCAGGGCCGGAGGGAGGCCGCAGAGACGGGCGGCCCCACCACGCAG
GAGGGGGTCGCCTGCGGCGTGCACCAGCTGGCCACACTGCTGATGGAGCTGGATTCAGAGGACG
AGGCCTCTCGCCTCCTGGCGGCTGATGCCCTGTACCGCCTGGGCCGCCTGGAGGAGACCCACAA
GGCCCTGCTGGTGGCCCTATCCCGGAGGCCCCAGGCAGCCCCTGTGCTGGCACGACTGGCCCTG
CTGCAGCTGAGGAGGGGCTTCTTCTATGACGCCAACCAGTTGGTGAAGAAGCTGGTCCAGTCTG
GTGACACCGCCTGCCTCCAGCCCACCCTGGACGTCTTCTGCCACGAGGACCGGCAGCTGCTTCA
AGGCCACTGCCACGCCAGGGCCCTGGCCATCCTGCGGGCACGGCCAGGCGGGGCCGACGGCAGG
GTTCACACCAAGGAGGCCATCGCCTACCTGTCTCTGGCCATCTTTGCCGCAGGAAGCCAGGCAA
GTGAGTCCCTCCTTGCCCGAGCCCGCTGCTATGGGTTCCTGGGCCAGAAGAAGACGGCCATGTT
CGACTTCAACACAGTGCTGCGGGCTGAGCCGGGGAACGTGCAGGCACTGTGTGGACGGGCGTTG
GTGCACCTGGCCCTAGACCAGCTGCAGGAAGCCGTGGACGACATCGTCTCTGCTCTGAAGCTCG
GCCCCGGGACTGTGGTCCCTGAGCTCCGCTCTCTGAAGCCGGAAGCCCAGGCCCTCATCACACA
GGGCCTCTACTCCCACTGCCGGGCCCTTCTGAGCCAGCTGCCAGACACTGGGGCCCCTCTCGAG
GACAAGGACACCCAGGGCCTCCTTGCTGTGGGGGAGGCGCTGATCAAAATCGACTCAGGGCAAC
CGCACTGGCACCTCCTCCTGGCAGACATTCTCATGGCACAGGGCAGCTACGAGGAAGCTGGCAC
CCACCTGGAAAAAGCCCTGCACCGTGCCCCAACGTCAGAGGCAGCCCGGGCCCGGCTGGGCCTG
CTCCAGCTCAAGAAGGGAGACGTGCCAGGGGCTGCAAGGGACCTGCAGAGCCTGGCCGAGGTGG
ATGCCCCGGATCTCAGCTGCCTGCTGCATCTCCTGGAGGCCTCGGAGCGGCAGAGCCTTGCCCA
GGCGGCGGCCCAGGAAGCCGGCACCCTCCTGGACGCAGGGCAACCCAGGCAGGCGCTGGGCTAC
TGTTCGCTGTCTGTCCTGGCCAGTGGCAGCAGTGCCTGTCACCTGCGTCTGCGGGCCACCTGCC
TGGCCGAGTTGCAGGAGTTTGGCCGGGCCCTTAGGGACCTGGACCATGTGCTCCAGGAGGCGCT
GGGGGATGGTGACCTCCCAAGGCGGGCAGAGGACTTCTGCCGTCAGGGTCGCCTGCTGCTGAGC
CTGGGGGATGAGGCGGCGGCCGCAGGGGCCTTTGCCCAGGCCCTGAAGCTGGCGCCCTCCTTGG
CCCAGAACAGCCTGTGCAGGCAGCCAGGCCGGGCCCCCACTGCACGCATGTTCCTTCTCCGCGG
GCAGTGCTGCCTGGAGGAGCAGCGTCACGCAGAGGCCTGGACGGCGGTAGAGAGCGGCCTCCTG
GTGGACCCCGACCACCGTGGCCTGAAGAGACTGAAGGCCAGAATCCGGAGGGAGGCATCCTCAG
GCTGCTGGCTACAGTGACTGGGCCTGACCCTCTCCCAGCCCTAATCACGGGGCCACCCTAGCAT
CTGCACCTGATGTCCAGGCCCAGGGGTGTACCCAGCTCCCTAAATCGGGGAG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001229601	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A8MYJ7	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000383873
	ENSP00000383873.4
	ENSP00000483029.1
	ENSP00000490537.1

RefSeq Acc Id:

NP_001229601 ⟸ NM_001242672

- UniProtKB:

A0A1C7CYW7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDSEDEASRLLAADALYRLG
RLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQPTLDVFCH
EDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASESLLARARCYGFLG
QKKTAMFDFNTVLRAEPGNVQALCGRALVHLALDQLQEAVDDIVSALKLGPGTVVPELRSLKPE
AQALITQGLYSHCRALLSQLPDTGAPLEDKDTQGLLAVGEALIKIDSGQPHWHLLLADILMAQG
SYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAARDLQSLAEVDAPDLSCLLHLLEAS
ERQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLASGSSACHLRLRATCLAELQEFGRALRDLD
HVLQEALGDGDLPRRAEDFCRQGRLLLSLGDEAAAAGAFAQALKLAPSLAQNSLCRQPGRAPTA
RMFLLRGQCCLEEQRHAEAWTAVESGLLVDPDHRGLKRLKARIRREASSGCWLQ

hide sequence

RefSeq Acc Id:

ENSP00000490537 ⟸ ENST00000637179

RefSeq Acc Id:

ENSP00000383873 ⟸ ENST00000401095

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A8MYJ7-F1-model_v2	AlphaFold	A8MYJ7	1-566	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:34297	AgrOrtholog
COSMIC	TTC34	COSMIC
Ensembl Genes	ENSG00000215912	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000275571	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000401095	ENTREZGENE
	ENST00000401095.9	UniProtKB/TrEMBL
	ENST00000611612.2	UniProtKB/Swiss-Prot
	ENST00000637179.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000215912	GTEx
	ENSG00000275571	GTEx
HGNC ID	HGNC:34297	ENTREZGENE
Human Proteome Map	TTC34	Human Proteome Map
InterPro	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TTC34	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:100287898	UniProtKB/Swiss-Prot
NCBI Gene	100287898	ENTREZGENE
PANTHER	PTHR44874	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TETRATRICOPEPTIDE REPEAT PROTEIN 34	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TPR_16	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR_8	UniProtKB/Swiss-Prot
PharmGKB	PA162407211	PharmGKB
PROSITE	TPR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR_REGION	UniProtKB/Swiss-Prot
SMART	TPR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF48452	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A1C7CYW7	ENTREZGENE, UniProtKB/TrEMBL
	A8MYJ7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A8MXL8	UniProtKB/Swiss-Prot

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

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

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

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar