ClinVar for MedGen (Select 383876) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1703657	GRCh37/hg19 16q24.3(chr16:89845820-89913583)	FANCA, SPIRE2	Copy number gain	46,XY sex reversal 7	GUncertain significance
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 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 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 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)	46,XY sex reversal 7 +1 more	GBenign/Likely benign
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 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 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)	not provided +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
Select item 309101	NM_021044.4(DHH):c.587C>A (p.Ala196Glu)	DHH (A196E)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 309100	NM_021044.4(DHH):c.726C>T (p.Phe242=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GUncertain significance
Select item 309099	NM_021044.4(DHH):c.926G>T (p.Arg309Leu)	DHH (R309L)	Single nucleotide variant (missense variant)	46,XY sex reversal 7 +1 more	GUncertain significance
Select item 309098	NM_021044.4(DHH):c.1134T>A (p.Thr378=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GConflicting classifications of pathogenicity
Select item 309097	NM_021044.4(DHH):c.*87G>T	DHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309096	NM_021044.4(DHH):c.*110G>C	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309095	NM_021044.4(DHH):c.*159G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309094	NM_021044.4(DHH):c.*219G>A	DHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 309093	NM_021044.4(DHH):c.*401G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 265768	NM_021044.4(DHH):c.1027T>C (p.Cys343Arg)	DHH (C343R)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GLikely pathogenic
Select item 5012	NM_021044.4(DHH):c.1086del (p.Leu363fs)	DHH (L363fs)	Deletion (frameshift variant)	46,XY sex reversal 7	GPathogenic
Select item 5011	NM_021044.4(DHH):c.485T>C (p.Leu162Pro)	DHH (L162P)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GPathogenic

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Links from MedGen

Items: 65