Dhh Variant Search Result - Rat Genome Database

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123 records found for search term Dhh

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11606798	CV317382	single nucleotide variant	NM_021044.4(DHH):c.*87G>T	46,XY sex reversal 7 [RCV000336065]\|not provided [RCV001653517]	benign\|likely benign	12	49089772	49089772	Human	1	name , alternate_id
11623090	CV325230	single nucleotide variant	NM_021044.4(DHH):c.-18C>T	46,XY sex reversal 7 [RCV000368188]	benign\|likely benign	12	49094530	49094530	Human	1	name , alternate_id
28910191	CV869922	single nucleotide variant	NM_021044.4(DHH):c.*65G>T	46,XY sex reversal 7 [RCV001108964]	uncertain significance	12	49089794	49089794	Human	1	name , alternate_id
28869922	CV869930	single nucleotide variant	NM_021044.4(DHH):c.-53G>A	46,XY sex reversal 7 [RCV001113329]	uncertain significance	12	49094565	49094565	Human	1	name , alternate_id
11620874	CV325213	single nucleotide variant	NM_021044.4(DHH):c.*219G>A	46,XY sex reversal 7 [RCV000341807]\|not provided [RCV001565063]	likely benign\|uncertain significance	12	49089640	49089640	Human	1	name , alternate_id
11663968	CV325217	single nucleotide variant	NM_021044.4(DHH):c.*159G>T	46,XY sex reversal 7 [RCV000401111]	uncertain significance	12	49089700	49089700	Human	1	name , alternate_id
11614616	CV325219	single nucleotide variant	NM_021044.4(DHH):c.*110G>C	46,XY sex reversal 7 [RCV000278609]	uncertain significance	12	49089749	49089749	Human	1	name , alternate_id
11615305	CV331430	single nucleotide variant	NM_021044.4(DHH):c.*401G>T	46,XY sex reversal 7 [RCV000284358]\|not provided [RCV004693113]	uncertain significance	12	49089458	49089458	Human	1	name , alternate_id
11614035	CV331449	single nucleotide variant	NM_021044.4(DHH):c.-254G>A	46,XY sex reversal 7 [RCV000273626]	uncertain significance	12	49094766	49094766	Human	1	name , alternate_id
11618888	CV331459	single nucleotide variant	NM_021044.4(DHH):c.-255T>C	46,XY sex reversal 7 [RCV000319094]\|not provided [RCV001672472]	benign\|likely benign	12	49094767	49094767	Human	1	name , alternate_id
11623521	CV332851	single nucleotide variant	NM_021044.4(DHH):c.-256C>G	46,XY sex reversal 7 [RCV000373796]	uncertain significance	12	49094768	49094768	Human	1	name , alternate_id
28872545	CV869920	single nucleotide variant	NM_021044.4(DHH):c.*427C>T	46,XY sex reversal 7 [RCV001114588]	uncertain significance	12	49089432	49089432	Human	1	name , alternate_id
28910188	CV869921	single nucleotide variant	NM_021044.4(DHH):c.*154G>T	46,XY sex reversal 7 [RCV001108963]	uncertain significance	12	49089705	49089705	Human	1	name , alternate_id
156157080	CV1926281	single nucleotide variant	NM_021044.4(DHH):c.566-8C>G	46,XY sex reversal 7 [RCV002624220]	uncertain significance	12	49090492	49090492	Human	1	name , alternate_id
405258762	CV3194150	single nucleotide variant	NM_021044.4(DHH):c.566-2A>G	DHH-related disorder [RCV003893731]	likely pathogenic	12	49090486	49090486	Human		name , trait , alternate_id
15192995	CV744644	single nucleotide variant	NM_021044.4(DHH):c.304-7C>T	not provided [RCV000910710]	likely benign	12	49091396	49091396	Human		name
150465431	CV1268609	single nucleotide variant	NM_021044.4(DHH):c.303+66C>T	not provided [RCV001694305]	benign	12	49094144	49094144	Human		name
150531993	CV1291749	single nucleotide variant	NM_021044.4(DHH):c.565+29G>A	not provided [RCV001733465]	likely benign	12	49091099	49091099	Human		name
152123837	CV1665600	single nucleotide variant	NM_021044.4(DHH):c.303+10G>A	46,XY sex reversal 7 [RCV002198413]	likely benign	12	49094200	49094200	Human	1	name , alternate_id
156113083	CV2104487	single nucleotide variant	NM_021044.4(DHH):c.303+17C>T	46,XY sex reversal 7 [RCV002927513]	likely benign	12	49094193	49094193	Human	1	name , alternate_id
156139924	CV2129463	single nucleotide variant	NM_021044.4(DHH):c.304-17C>T	46,XY sex reversal 7 [RCV002954190]	likely benign	12	49091406	49091406	Human	1	name , alternate_id
405164989	CV3009211	single nucleotide variant	NM_021044.4(DHH):c.304-15T>C	46,XY sex reversal 7 [RCV003637966]	likely benign	12	49091404	49091404	Human	1	name , alternate_id
405208982	CV3162540	single nucleotide variant	NM_021044.4(DHH):c.303+16C>G	46,XY sex reversal 7 [RCV003861839]	benign	12	49094194	49094194	Human	1	name , alternate_id
28911895	CV872250	single nucleotide variant	NM_021044.4(DHH):c.565+13G>A	46,XY sex reversal 7 [RCV001111322]	uncertain significance	12	49091115	49091115	Human	1	name , alternate_id
150410151	CV1191429	single nucleotide variant	NM_021044.4(DHH):c.566-187C>G	not provided [RCV001565906]	likely benign	12	49090671	49090671	Human		name
150516447	CV1227068	single nucleotide variant	NM_021044.4(DHH):c.304-201G>C	not provided [RCV001639166]	benign	12	49091590	49091590	Human		name
150446235	CV1278285	single nucleotide variant	NM_021044.4(DHH):c.566-227C>A	not provided [RCV001707428]	benign	12	49090711	49090711	Human		name
150530132	CV1291375	single nucleotide variant	NM_021044.4(DHH):c.303+143A>G	not provided [RCV001732753]	likely benign	12	49094067	49094067	Human		name
150531943	CV1291541	single nucleotide variant	NM_021044.4(DHH):c.303+142A>G	not provided [RCV001733320]	likely benign	12	49094068	49094068	Human		name
155268757	CV1705584	deletion	NM_021044.4(DHH):c.303+133del	not provided [RCV002286191]	likely benign	12	49094077	49094077	Human		name
150418410	CV1181015	microsatellite	NM_021044.4(DHH):c.566-227CATA[9]	not provided [RCV001550589]	likely benign	12	49090668	49090675	Human		name
40815181	CV969318	duplication	NM_021044.4(DHH):c.304-572_492dup	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV001260583]	pathogenic	12	49091200	49091201	Human	1	name
150453869	CV1205708	microsatellite	NM_021044.4(DHH):c.566-227CATA[13]	not provided [RCV001585609]	likely benign	12	49090667	49090668	Human		name
150502715	CV1241629	microsatellite	NM_021044.4(DHH):c.566-227CATA[12]	not provided [RCV001657220]	benign	12	49090667	49090668	Human		name
150492782	CV1257421	microsatellite	NM_021044.4(DHH):c.566-227CATA[10]	not provided [RCV001675094]	benign	12	49090668	49090671	Human		name
8596654	CV20049	single nucleotide variant	NM_021044.4(DHH):c.2T>C (p.Met1Thr)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV000005313]	pathogenic	12	49094511	49094511	Human	1	name
152176631	CV1545569	single nucleotide variant	NM_021044.4(DHH):c.174C>A (p.Gly58=)	46,XY sex reversal 7 [RCV002164777]\|DHH-related disorder [RCV003958504]	likely benign	12	49094339	49094339	Human	2	name , trait , alternate_id
404989366	CV2882718	single nucleotide variant	NM_021044.4(DHH):c.25C>G (p.Pro9Ala)	46,XY sex reversal 7 [RCV003524912]	benign	12	49094488	49094488	Human	1	name , alternate_id
405289256	CV3205017	single nucleotide variant	NM_021044.4(DHH):c.213C>T (p.Ser71=)	DHH-related disorder [RCV003961639]	likely benign	12	49094300	49094300	Human		name , trait , alternate_id
11618441	CV332850	single nucleotide variant	NM_021044.4(DHH):c.234G>A (p.Val78=)	46,XY sex reversal 7 [RCV000313384]\|not provided [RCV003391104]\|not specified [RCV001820912]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	49094279	49094279	Human	1	name , alternate_id
15180108	CV702337	single nucleotide variant	NM_021044.4(DHH):c.228C>T (p.Asp76=)	46,XY sex reversal 7 [RCV000951671]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	49094285	49094285	Human	1	name , alternate_id
15192519	CV702338	single nucleotide variant	NM_021044.4(DHH):c.192G>A (p.Glu64=)	46,XY sex reversal 7 [RCV000955095]\|not provided [RCV004707503]	benign	12	49094321	49094321	Human	1	name , alternate_id
15112080	CV784403	single nucleotide variant	NM_021044.4(DHH):c.132C>G (p.Leu44=)	not provided [RCV000977757]	likely benign	12	49094381	49094381	Human		name
28869919	CV869929	single nucleotide variant	NM_021044.4(DHH):c.135C>T (p.Tyr45=)	46,XY sex reversal 7 [RCV001113328]	uncertain significance	12	49094378	49094378	Human	1	name , alternate_id
150480471	CV1221975	duplication	NM_021044.4(DHH):c.566-231_566-228dup	not provided [RCV001616772]	benign	12	49090711	49090712	Human		name
156114721	CV2104572	single nucleotide variant	NM_021044.4(DHH):c.681G>T (p.Ala227=)	46,XY sex reversal 7 [RCV002927578]	likely benign	12	49090369	49090369	Human	1	name , alternate_id
405054443	CV2887610	single nucleotide variant	NM_021044.4(DHH):c.324C>T (p.Asn108=)	46,XY sex reversal 7 [RCV003522370]	likely benign	12	49091369	49091369	Human	1	name , alternate_id
404991602	CV2890199	single nucleotide variant	NM_021044.4(DHH):c.804G>A (p.Thr268=)	46,XY sex reversal 7 [RCV003525120]	likely benign	12	49090246	49090246	Human	1	name , alternate_id
405682142	CV3246982	single nucleotide variant	NM_021044.4(DHH):c.43C>T (p.Leu15Phe)	Inborn genetic diseases [RCV004371378]	uncertain significance	12	49094470	49094470	Human	1	name
11660309	CV325221	single nucleotide variant	NM_021044.4(DHH):c.726C>T (p.Phe242=)	46,XY sex reversal 7 [RCV000365991]	uncertain significance	12	49090324	49090324	Human	1	name , alternate_id
11652928	CV325225	single nucleotide variant	NM_021044.4(DHH):c.576G>C (p.Leu192=)	46,XY DSD/46,XY CGD [RCV000307725]	uncertain significance	12	49090474	49090474	Human	1	name
11622625	CV325228	single nucleotide variant	NM_021044.4(DHH):c.543C>T (p.His181=)	46,XY sex reversal 7 [RCV001512135]\|not provided [RCV001718630]\|not specified [RCV001795929]	benign\|uncertain significance	12	49091150	49091150	Human	1	name , alternate_id
11614473	CV331447	single nucleotide variant	NM_021044.4(DHH):c.367C>T (p.Leu123=)	46,XY sex reversal 7 [RCV000277072]	uncertain significance	12	49091326	49091326	Human	1	name , alternate_id
597876311	CV3803836	single nucleotide variant	NM_021044.4(DHH):c.909C>T (p.Pro303=)	46,XY sex reversal 7 [RCV005151397]	likely benign	12	49090141	49090141	Human	1	name , alternate_id
13475247	CV462246	single nucleotide variant	NM_021044.4(DHH):c.80G>A (p.Arg27Gln)	46,XY sex reversal 7 [RCV000548622]	uncertain significance	12	49094433	49094433	Human	1	name , alternate_id
151356112	CV1328876	single nucleotide variant	NM_021044.4(DHH):c.160G>C (p.Glu54Gln)	not specified [RCV001822465]	uncertain significance	12	49094353	49094353	Human		name
151741798	CV1466912	single nucleotide variant	NM_021044.4(DHH):c.286G>T (p.Asp96Tyr)	46,XY sex reversal 7 [RCV001911993]	uncertain significance	12	49094227	49094227	Human	1	name , alternate_id
155930409	CV1908958	single nucleotide variant	NM_021044.4(DHH):c.121G>T (p.Val41Leu)	46,XY sex reversal 7 [RCV002614964]	uncertain significance	12	49094392	49094392	Human	1	name , alternate_id
156122198	CV1969239	single nucleotide variant	NM_021044.4(DHH):c.1182A>G (p.Leu394=)	46,XY sex reversal 7 [RCV002593174]	likely benign	12	49089868	49089868	Human	1	name , alternate_id
155986243	CV2097791	single nucleotide variant	NM_021044.4(DHH):c.151G>A (p.Gly51Ser)	46,XY sex reversal 7 [RCV002882173]	uncertain significance	12	49094362	49094362	Human	1	name , alternate_id
156278575	CV2227572	single nucleotide variant	NM_021044.4(DHH):c.134A>G (p.Tyr45Cys)	Inborn genetic diseases [RCV002746951]	uncertain significance	12	49094379	49094379	Human	1	name
401721161	CV2737463	single nucleotide variant	NM_021044.4(DHH):c.119T>C (p.Leu40Pro)	46,XY sex reversal 7 [RCV003314402]	uncertain significance	12	49094394	49094394	Human	1	name , alternate_id
401961900	CV2844223	single nucleotide variant	NM_021044.4(DHH):c.247C>T (p.Pro83Ser)	not provided [RCV003482065]	uncertain significance	12	49094266	49094266	Human		name
401961901	CV2844224	single nucleotide variant	NM_021044.4(DHH):c.227A>G (p.Asp76Gly)	not provided [RCV003482066]	uncertain significance	12	49094286	49094286	Human		name
404984568	CV2851617	duplication	NM_021044.4(DHH):c.825dup (p.Ala276fs)	not provided [RCV003489351]	likely pathogenic	12	49090224	49090225	Human		name
405258312	CV3203181	single nucleotide variant	NM_021044.4(DHH):c.1104G>C (p.Ala368=)	DHH-related disorder [RCV003941789]	likely benign	12	49089946	49089946	Human		name , trait , alternate_id
405682132	CV3246980	single nucleotide variant	NM_021044.4(DHH):c.101G>A (p.Arg34His)	Inborn genetic diseases [RCV004371376]	uncertain significance	12	49094412	49094412	Human	1	name
11624920	CV331436	single nucleotide variant	NM_021044.4(DHH):c.1134T>A (p.Thr378=)	46,XY sex reversal 7 [RCV000878604]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	49089916	49089916	Human	1	name , alternate_id
407466989	CV3434041	single nucleotide variant	NM_021044.4(DHH):c.106G>T (p.Ala36Ser)	Inborn genetic diseases [RCV004614102]	uncertain significance	12	49094407	49094407	Human	1	name
408391421	CV3527990	single nucleotide variant	NM_021044.4(DHH):c.288C>A (p.Asp96Glu)	not provided [RCV004775262]	uncertain significance	12	49094225	49094225	Human		name
15179487	CV702339	single nucleotide variant	NM_021044.4(DHH):c.188C>G (p.Ala63Gly)	46,XY sex reversal 7 [RCV002546028]\|DHH-related disorder [RCV003943036]\|not provided [RCV004709003]	benign\|likely benign	12	49094325	49094325	Human	2	name , trait , alternate_id
28869918	CV869928	single nucleotide variant	NM_021044.4(DHH):c.217C>G (p.Arg73Gly)	46,XY sex reversal 7 [RCV001113327]	uncertain significance	12	49094296	49094296	Human	1	name , alternate_id
126739505	CV1017631	microsatellite	NM_021044.4(DHH):c.78_82dup (p.Gly28fs)	46,XY gonadal dysgenesis, partial, with minifascicular neuropathy [RCV001329205]	pathogenic	12	49094430	49094431	Human		name
127287281	CV1152496	single nucleotide variant	NM_021044.4(DHH):c.832G>C (p.Gly278Arg)	not provided [RCV001507798]	uncertain significance	12	49090218	49090218	Human		name
150416174	CV1192601	single nucleotide variant	NM_021044.4(DHH):c.913G>A (p.Gly305Arg)	Disorder of sexual differentiation [RCV001568330]	uncertain significance	12	49090137	49090137	Human	1	name
151717746	CV1368535	single nucleotide variant	NM_021044.4(DHH):c.605G>A (p.Gly202Glu)	46,XY sex reversal 7 [RCV001965477]	uncertain significance	12	49090445	49090445	Human	1	name , alternate_id
151715323	CV1407886	single nucleotide variant	NM_021044.4(DHH):c.799C>G (p.Leu267Val)	46,XY sex reversal 7 [RCV001890221]	uncertain significance	12	49090251	49090251	Human	1	name , alternate_id
151748845	CV1511922	single nucleotide variant	NM_021044.4(DHH):c.324C>A (p.Asn108Lys)	46,XY sex reversal 7 [RCV001986064]	uncertain significance	12	49091369	49091369	Human	1	name , alternate_id
155798326	CV1861947	single nucleotide variant	NM_021044.4(DHH):c.434G>C (p.Arg145Pro)	46,XY sex reversal 7 [RCV002471350]	uncertain significance	12	49091259	49091259	Human	1	name , alternate_id
8596655	CV20050	single nucleotide variant	NM_021044.4(DHH):c.485T>C (p.Leu162Pro)	46,XY sex reversal 7 [RCV000005314]	pathogenic	12	49091208	49091208	Human	1	name , alternate_id
8558427	CV20051	deletion	NM_021044.4(DHH):c.1086del (p.Leu363fs)	46,XY sex reversal 7 [RCV000005315]	pathogenic	12	49089964	49089964	Human	1	name , alternate_id
155967050	CV2216791	single nucleotide variant	NM_021044.4(DHH):c.535C>T (p.Arg179Cys)	Inborn genetic diseases [RCV002687163]	uncertain significance	12	49091158	49091158	Human	1	name
156276103	CV2276706	single nucleotide variant	NM_021044.4(DHH):c.935G>A (p.Arg312His)	Inborn genetic diseases [RCV002832615]	uncertain significance	12	49090115	49090115	Human	1	name
329373986	CV2447518	single nucleotide variant	NM_021044.4(DHH):c.317G>A (p.Arg106Gln)	Inborn genetic diseases [RCV003185300]	uncertain significance	12	49091376	49091376	Human	1	name
329402572	CV2454797	single nucleotide variant	NM_021044.4(DHH):c.340G>A (p.Val114Met)	Inborn genetic diseases [RCV003199459]	uncertain significance	12	49091353	49091353	Human	1	name
405189364	CV3121393	single nucleotide variant	NM_021044.4(DHH):c.602C>A (p.Pro201Gln)	46,XY sex reversal 7 [RCV003820849]	uncertain significance	12	49090448	49090448	Human	1	name , alternate_id
405682552	CV3246981	single nucleotide variant	NM_021044.4(DHH):c.393G>C (p.Glu131Asp)	Inborn genetic diseases [RCV004371377]	uncertain significance	12	49091300	49091300	Human	1	name
11651976	CV331437	single nucleotide variant	NM_021044.4(DHH):c.926G>T (p.Arg309Leu)	46,XY sex reversal 7 [RCV000301984]\|not provided [RCV001508336]	uncertain significance	12	49090124	49090124	Human	1	name , alternate_id
11625697	CV331445	single nucleotide variant	NM_021044.4(DHH):c.587C>A (p.Ala196Glu)	46,XY sex reversal 7 [RCV000401936]	uncertain significance	12	49090463	49090463	Human	1	name , alternate_id
407466980	CV3434038	single nucleotide variant	NM_021044.4(DHH):c.304C>T (p.Arg102Cys)	Inborn genetic diseases [RCV004614099]	uncertain significance	12	49091389	49091389	Human	1	name
407466984	CV3434039	single nucleotide variant	NM_021044.4(DHH):c.509G>T (p.Gly170Val)	Inborn genetic diseases [RCV004614100]	uncertain significance	12	49091184	49091184	Human	1	name
407466987	CV3434040	single nucleotide variant	NM_021044.4(DHH):c.821T>A (p.Phe274Tyr)	Inborn genetic diseases [RCV004614101]	uncertain significance	12	49090229	49090229	Human	1	name
408365211	CV3500629	single nucleotide variant	NM_021044.4(DHH):c.803C>T (p.Thr268Met)	46,XY sex reversal 7 [RCV004720658]	uncertain significance	12	49090247	49090247	Human	1	name , alternate_id
408385011	CV3506431	single nucleotide variant	NM_021044.4(DHH):c.596G>A (p.Cys199Tyr)	DHH-related disorder [RCV004732193]	uncertain significance	12	49090454	49090454	Human		name , trait , alternate_id
597657839	CV3655668	single nucleotide variant	NM_021044.4(DHH):c.803C>A (p.Thr268Lys)	Inborn genetic diseases [RCV004976795]	uncertain significance	12	49090247	49090247	Human	1	name
598161846	CV3953021	single nucleotide variant	NM_021044.4(DHH):c.874C>A (p.Arg292Ser)	Inborn genetic diseases [RCV005329056]	uncertain significance	12	49090176	49090176	Human	1	name
13471935	CV463136	single nucleotide variant	NM_021044.4(DHH):c.860C>A (p.Ala287Glu)	46,XY sex reversal 7 [RCV000524661]	uncertain significance	12	49090190	49090190	Human	1	name , alternate_id
13798577	CV551459	single nucleotide variant	NM_021044.4(DHH):c.371G>A (p.Arg124Gln)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV000678493]	pathogenic	12	49091322	49091322	Human	1	name
13803139	CV552293	single nucleotide variant	NM_021044.4(DHH):c.528C>A (p.Tyr176Ter)	46,XY sex reversal 7 [RCV000714234]	pathogenic	12	49091165	49091165	Human	1	name , alternate_id
13803140	CV552294	deletion	NM_021044.4(DHH):c.1011del (p.Asn337fs)	46,XY sex reversal 7 [RCV000714235]	pathogenic	12	49090039	49090039	Human	1	name , alternate_id
13803142	CV552295	single nucleotide variant	NM_021044.4(DHH):c.528C>G (p.Tyr176Ter)	46,XY sex reversal 7 [RCV000714236]	pathogenic	12	49091165	49091165	Human	1	name , alternate_id
13803143	CV552296	single nucleotide variant	NM_021044.4(DHH):c.634G>A (p.Glu212Lys)	46,XY sex reversal 7 [RCV000714237]	likely pathogenic	12	49090416	49090416	Human	1	name , alternate_id
28910192	CV869923	single nucleotide variant	NM_021044.4(DHH):c.953G>C (p.Arg318Pro)	46,XY sex reversal 7 [RCV001108965]\|not provided [RCV004720765]	uncertain significance	12	49090097	49090097	Human	1	name , alternate_id
28911893	CV869924	single nucleotide variant	NM_021044.4(DHH):c.656T>G (p.Leu219Arg)	46,XY sex reversal 7 [RCV001111320]	uncertain significance	12	49090394	49090394	Human	1	name , alternate_id
28911894	CV869925	single nucleotide variant	NM_021044.4(DHH):c.630C>A (p.Ser210Arg)	46,XY sex reversal 7 [RCV001111321]	uncertain significance	12	49090420	49090420	Human	1	name , alternate_id
28911896	CV869926	single nucleotide variant	NM_021044.4(DHH):c.536G>A (p.Arg179His)	46,XY sex reversal 7 [RCV001111323]	uncertain significance	12	49091157	49091157	Human	1	name , alternate_id
28869916	CV869927	single nucleotide variant	NM_021044.4(DHH):c.305G>A (p.Arg102His)	46,XY sex reversal 7 [RCV001113325]\|Inborn genetic diseases [RCV002558129]	uncertain significance	12	49091388	49091388	Human	2	name , alternate_id
38484274	CV926652	single nucleotide variant	NM_021044.4(DHH):c.822T>G (p.Phe274Leu)	46,XY sex reversal 7 [RCV001219335]	uncertain significance	12	49090228	49090228	Human	1	name , alternate_id
38468850	CV936145	single nucleotide variant	NM_021044.4(DHH):c.980C>A (p.Pro327Gln)	46,XY sex reversal 7 [RCV001202308]	uncertain significance	12	49090070	49090070	Human	1	name , alternate_id
40815183	CV969319	single nucleotide variant	NM_021044.4(DHH):c.519G>T (p.Trp173Cys)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV001260584]	pathogenic	12	49091174	49091174	Human	1	name
40815185	CV969320	single nucleotide variant	NM_021044.4(DHH):c.554C>A (p.Ser185Ter)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV001260585]	pathogenic	12	49091139	49091139	Human	1	name
127288193	CV1152495	single nucleotide variant	NM_021044.4(DHH):c.1130C>A (p.Pro377Gln)	not provided [RCV001508335]	uncertain significance	12	49089920	49089920	Human		name
152982850	CV1677709	single nucleotide variant	NM_021044.4(DHH):c.1004T>C (p.Leu335Pro)	46,XY sex reversal 7 [RCV002249862]	pathogenic	12	49090046	49090046	Human	1	name , alternate_id
11558195	CV260443	single nucleotide variant	NM_021044.4(DHH):c.1027T>C (p.Cys343Arg)	46,XY sex reversal 7 [RCV000256189]	pathogenic\|likely pathogenic	12	49090023	49090023	Human	1	name , alternate_id
401897053	CV2782499	single nucleotide variant	NM_021044.4(DHH):c.1129C>A (p.Pro377Thr)	Inborn genetic diseases [RCV003374671]	uncertain significance	12	49089921	49089921	Human	1	name
597657847	CV3655669	single nucleotide variant	NM_021044.4(DHH):c.1114G>A (p.Gly372Ser)	Inborn genetic diseases [RCV004976796]	uncertain significance	12	49089936	49089936	Human	1	name
597657852	CV3655670	single nucleotide variant	NM_021044.4(DHH):c.1063C>T (p.Arg355Cys)	Inborn genetic diseases [RCV004976797]	uncertain significance	12	49089987	49089987	Human	1	name
597657856	CV3655671	single nucleotide variant	NM_021044.4(DHH):c.1031A>T (p.Tyr344Phe)	Inborn genetic diseases [RCV004976798]	uncertain significance	12	49090019	49090019	Human	1	name
616937283	CV4011382	single nucleotide variant	NM_021044.4(DHH):c.1112C>T (p.Pro371Leu)	46,XY sex reversal 7 [RCV005407463]	uncertain significance	12	49089938	49089938	Human	1	name , alternate_id
150512073	CV1212909	insertion	NM_021044.4(DHH):c.566-224_566-223insATAA	not provided [RCV001598141]	benign	12	49090707	49090708	Human		name
405259476	CV3194849	duplication	NM_021044.4(DHH):c.273_275dup (p.Glu91_Asn92insLys)	DHH-related disorder [RCV003894237]\|Inborn genetic diseases [RCV004981137]	uncertain significance	12	49094237	49094238	Human	2	name , trait , alternate_id
401961899	CV2844222	duplication	NM_021044.4(DHH):c.936_944dup (p.Arg318_Glu319insValAlaArg)	not provided [RCV003482064]	uncertain significance	12	49090105	49090106	Human		name
155265891	CV1696048	copy number gain	GRCh37/hg19 16q24.3(chr16:89845820-89913583)	46,XY sex reversal 7 [RCV002280745]	uncertain significance				Human		alternate_id

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