ClinVar for Gene (Select 50846) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082022	NM_021044.4(DHH):c.43C>T (p.Leu15Phe)	DHH (L15F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082021	NM_021044.4(DHH):c.393G>C (p.Glu131Asp)	DHH (E131D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082020	NM_021044.4(DHH):c.101G>A (p.Arg34His)	DHH (R34H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049941	NM_021044.4(DHH):c.213C>T (p.Ser71=)	DHH	Single nucleotide variant (synonymous variant)	DHH-related disorder	GLikely benign
Select item 3042896	NM_021044.4(DHH):c.1104G>C (p.Ala368=)	DHH	Single nucleotide variant (synonymous variant)	DHH-related disorder	GLikely benign
Select item 3031090	NM_021044.4(DHH):c.273_275dup (p.Glu91_Asn92insLys)	DHH	Duplication (inframe insertion)	DHH-related disorder	GUncertain significance
Select item 3029074	NM_021044.4(DHH):c.566-2A>G	DHH	Single nucleotide variant (splice acceptor variant)	DHH-related disorder	GLikely pathogenic
Select item 3008712	NM_021044.4(DHH):c.303+16C>G	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GBenign
Select item 2966235	NM_021044.4(DHH):c.602C>A (p.Pro201Gln)	DHH (P201Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 2849422	NM_021044.4(DHH):c.304-15T>C	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GLikely benign
Select item 2731444	NM_021044.4(DHH):c.804G>A (p.Thr268=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GLikely benign
Select item 2727400	NM_021044.4(DHH):c.25C>G (p.Pro9Ala)	DHH (P9A)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GBenign
Select item 2721084	NM_021044.4(DHH):c.324C>T (p.Asn108=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GLikely benign
Select item 2690584	NM_021044.4(DHH):c.825dup (p.Ala276fs)	DHH (A276fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2683199	NM_021044.4(DHH):c.227A>G (p.Asp76Gly)	DHH (D76G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683198	NM_021044.4(DHH):c.247C>T (p.Pro83Ser)	DHH (P83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683197	NM_021044.4(DHH):c.936_944dup (p.Arg318_Glu319insValAlaArg)	DHH	Duplication (inframe insertion)	not provided	GUncertain significance
Select item 2618754	NM_021044.4(DHH):c.1129C>A (p.Pro377Thr)	DHH (P377T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572517	NM_021044.4(DHH):c.119T>C (p.Leu40Pro)	DHH (L40P)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 2481080	NM_021044.4(DHH):c.340G>A (p.Val114Met)	DHH (V114M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464787	NM_021044.4(DHH):c.317G>A (p.Arg106Gln)	DHH (R106Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292954	NM_021044.4(DHH):c.935G>A (p.Arg312His)	DHH (R312H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232944	NM_021044.4(DHH):c.134A>G (p.Tyr45Cys)	DHH (Y45C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218260	NM_021044.4(DHH):c.535C>T (p.Arg179Cys)	DHH (R179C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194081	NM_021044.4(DHH):c.566-8C>G	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GUncertain significance
Select item 2178846	NM_021044.4(DHH):c.121G>T (p.Val41Leu)	DHH (V41L)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 2068074	NM_021044.4(DHH):c.304-17C>T	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GLikely benign
Select item 2051864	NM_021044.4(DHH):c.681G>T (p.Ala227=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GLikely benign
Select item 2051779	NM_021044.4(DHH):c.303+17C>T	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GLikely benign
Select item 2037300	NM_021044.4(DHH):c.151G>A (p.Gly51Ser)	DHH (G51S)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 1910314	NM_021044.4(DHH):c.1182A>G (p.Leu394=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GLikely benign
Select item 1804932	NM_021044.4(DHH):c.434G>C (p.Arg145Pro)	DHH (R145P)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 1707275	NM_021044.4(DHH):c.303+133del	DHH	Deletion (intron variant)	not provided	GLikely benign
Select item 1685695	NM_021044.4(DHH):c.1004T>C (p.Leu335Pro)	DHH (L335P)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GPathogenic
Select item 1669346	NM_021044.4(DHH):c.303+10G>A	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GLikely benign
Select item 1541814	NM_021044.4(DHH):c.174C>A (p.Gly58=)	DHH	Single nucleotide variant (synonymous variant)	DHH-related disorder +1 more	GLikely benign
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1490815	NM_021044.4(DHH):c.324C>A (p.Asn108Lys)	DHH (N108K)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 1440085	NM_021044.4(DHH):c.605G>A (p.Gly202Glu)	DHH (G202E)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 1378694	NM_021044.4(DHH):c.799C>G (p.Leu267Val)	DHH (L267V)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 1376380	NM_021044.4(DHH):c.286G>T (p.Asp96Tyr)	DHH (D96Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 1337867	NM_021044.4(DHH):c.160G>C (p.Glu54Gln)	DHH (E54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301463	NM_021044.4(DHH):c.565+29G>A	DHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301258	NM_021044.4(DHH):c.303+142A>G	DHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301092	NM_021044.4(DHH):c.303+143A>G	DHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288453	NM_021044.4(DHH):c.566-227C>A	DHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275980	NM_021044.4(DHH):c.303+66C>T	DHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265798	NM_021044.4(DHH):c.566-227CATA[10]	DHH	Microsatellite (intron variant)	not provided	GBenign
Select item 1251283	NM_021044.4(DHH):c.566-227CATA[12]	DHH	Microsatellite (intron variant)	not provided	GBenign
Select item 1236651	NM_021044.4(DHH):c.304-201G>C	DHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230725	NM_021044.4(DHH):c.566-231_566-228dup	DHH	Duplication (intron variant)	not provided	GBenign
Select item 1222511	NM_021044.4(DHH):c.566-224_566-223insATAA	DHH	Insertion (intron variant)	not provided	GBenign
Select item 1215727	NM_021044.4(DHH):c.566-227CATA[13]	DHH	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1202599	NM_021044.4(DHH):c.913G>A (p.Gly305Arg)	DHH (G305R)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 1200778	NM_021044.4(DHH):c.566-187C>G	DHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190026	NM_021044.4(DHH):c.566-227CATA[9]	DHH	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1163354	NM_021044.4(DHH):c.1130C>A (p.Pro377Gln)	DHH (P377Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163052	NM_021044.4(DHH):c.832G>C (p.Gly278Arg)	DHH (G278R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 981236	NM_021044.4(DHH):c.554C>A (p.Ser185Ter)	DHH (S185*)	Single nucleotide variant (nonsense)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	GPathogenic
Select item 981235	NM_021044.4(DHH):c.519G>T (p.Trp173Cys)	DHH (W173C)	Single nucleotide variant (missense variant)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	GPathogenic
Select item 981234	NM_021044.4(DHH):c.304-572_492dup	DHH	Duplication (splice acceptor variant)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	GPathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 948136	NM_021044.4(DHH):c.822T>G (p.Phe274Leu)	DHH (F274L)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 933985	NM_021044.4(DHH):c.980C>A (p.Pro327Gln)	DHH (P327Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 883846	NM_021044.4(DHH):c.*427C>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 883143	NM_021044.4(DHH):c.-53G>A	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 883142	NM_021044.4(DHH):c.135C>T (p.Tyr45=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GUncertain significance
Select item 883141	NM_021044.4(DHH):c.217C>G (p.Arg73Gly)	DHH (R73G)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 883140	NM_021044.4(DHH):c.305G>A (p.Arg102His)	DHH (R102H)	Single nucleotide variant (missense variant)	46,XY sex reversal 7 +1 more	GUncertain significance
Select item 881978	NM_021044.4(DHH):c.536G>A (p.Arg179His)	DHH (R179H)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 881977	NM_021044.4(DHH):c.565+13G>A	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GUncertain significance
Select item 881976	NM_021044.4(DHH):c.630C>A (p.Ser210Arg)	DHH (S210R)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 881975	NM_021044.4(DHH):c.656T>G (p.Leu219Arg)	DHH (L219R)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 880556	NM_021044.4(DHH):c.953G>C (p.Arg318Pro)	DHH (R318P)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 880555	NM_021044.4(DHH):c.*65G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 880554	NM_021044.4(DHH):c.*154G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 794499	NM_021044.4(DHH):c.132C>G (p.Leu44=)	DHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775008	NM_021044.4(DHH):c.192G>A (p.Glu64=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GBenign
Select item 772189	NM_021044.4(DHH):c.228C>T (p.Asp76=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GConflicting classifications of pathogenicity
Select item 772085	NM_021044.4(DHH):c.188C>G (p.Ala63Gly)	DHH (A63G)	Single nucleotide variant (missense variant)	DHH-related disorder +1 more	GBenign/Likely benign
Select item 735198	NM_021044.4(DHH):c.304-7C>T	DHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 561190	NM_021044.4(DHH):c.634G>A (p.Glu212Lys)	DHH (E212K)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GLikely pathogenic
Select item 561189	NM_021044.4(DHH):c.528C>G (p.Tyr176Ter)	DHH (Y176*)	Single nucleotide variant (nonsense)	46,XY sex reversal 7	GPathogenic
Select item 561188	NM_021044.4(DHH):c.1011del (p.Asn337fs)	DHH (N337fs)	Deletion (frameshift variant)	46,XY sex reversal 7	GPathogenic
Select item 561187	NM_021044.4(DHH):c.528C>A (p.Tyr176Ter)	DHH (Y176*)	Single nucleotide variant (nonsense)	46,XY sex reversal 7	GPathogenic
Select item 560406	NM_021044.4(DHH):c.371G>A (p.Arg124Gln)	DHH (R124Q)	Single nucleotide variant (missense variant)	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 466305	NM_021044.4(DHH):c.860C>A (p.Ala287Glu)	DHH (A287E)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 466304	NM_021044.4(DHH):c.80G>A (p.Arg27Gln)	DHH (R27Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 309109	NM_021044.4(DHH):c.-256C>G	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309108	NM_021044.4(DHH):c.-255T>C	DHH	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 309107	NM_021044.4(DHH):c.-254G>A	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309106	NM_021044.4(DHH):c.-18C>T	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GBenign
Select item 309105	NM_021044.4(DHH):c.234G>A (p.Val78=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7 +2 more	GConflicting classifications of pathogenicity
Select item 309104	NM_021044.4(DHH):c.367C>T (p.Leu123=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GUncertain significance
Select item 309103	NM_021044.4(DHH):c.543C>T (p.His181=)	DHH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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