ClinVar for MedGen (Select 412662) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242611	NC_000024.9:g.(?_2654792)_(2655895_?)del	SRY	Deletion	46,XY sex reversal 1	GPathogenic
Select item 3024132	NC_000024.10:g.2792798G>A		Single nucleotide variant	46,XY sex reversal 1	GPathogenic
Select item 3024128	NC_000024.10:g.2792795A>G		Single nucleotide variant	46,XY sex reversal 1	GPathogenic
Select item 2842353	NM_003140.3(SRY):c.272G>A (p.Ser91Asn)	SRY (S91N)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 2829588	NM_003140.3(SRY):c.145G>T (p.Gly49Ter)	SRY (G49*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 2699642	NM_003140.3(SRY):c.472C>T (p.Gln158Ter)	SRY (Q158*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GUncertain significance
Select item 2693711	NM_003140.3(SRY):c.174_175insC (p.Arg59fs)	SRY (R59fs)	Insertion (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 2431744	NM_003140.3(SRY):c.263C>G (p.Ser88Ter)	SRY (S88*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GLikely pathogenic
Select item 2424632	NC_000024.9:g.(?_2654792)_(2655895_?)dup	SRY	Duplication	46,XY sex reversal 1	GUncertain significance
Select item 1505389	NM_003140.3(SRY):c.589C>A (p.Arg197Ser)	SRY (R197S)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 1490028	NM_003140.3(SRY):c.226C>T (p.Arg76Cys)	SRY (R76C)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 1470948	NM_003140.3(SRY):c.212C>A (p.Ser71Tyr)	SRY (S71Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GLikely pathogenic
Select item 1433108	NC_000024.10:g.2787734C>T	LOC108178989, SRY	Single nucleotide variant	46,XY sex reversal 1	GUncertain significance
Select item 1411113	NM_003140.3(SRY):c.251G>C (p.Arg84Thr)	SRY (R84T)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 1369014	NM_003140.3(SRY):c.253A>G (p.Met85Val)	SRY (M85V)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 1045315	NM_003140.3(SRY):c.321G>T (p.Trp107Cys)	SRY (W107C)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 949914	NM_003140.3(SRY):c.248C>A (p.Pro83His)	SRY (P83H)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 752210	NM_003140.3(SRY):c.339A>G (p.Ala113=)	SRY	Single nucleotide variant (synonymous variant)	46,XY sex reversal 1	GLikely benign
Select item 703672	NM_003140.3(SRY):c.465C>T (p.Ser155=)	SRY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 664404	NM_003140.3(SRY):c.169C>T (p.Gln57Ter)	SRY (Q57*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 652674	NM_003140.3(SRY):c.570del (p.Ser191fs)	SRY (S191fs)	Deletion (frameshift variant)	46,XY sex reversal 1	GUncertain significance
Select item 537739	NM_003140.3(SRY):c.263C>A (p.Ser88Ter)	SRY (S88*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 537738	NM_003140.3(SRY):c.288C>G (p.Tyr96Ter)	SRY (Y96*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 492908	NM_003140.3(SRY):c.89G>T (p.Arg30Ile)	SRY (R30I)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 492907	NM_003140.3(SRY):c.266A>C (p.Glu89Ala)	SRY (E89A)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 470196	NM_003140.3(SRY):c.380A>G (p.Tyr127Cys)	SRY (Y127C)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 470195	NM_003140.3(SRY):c.264dup (p.Glu89fs)	SRY (E89fs)	Duplication (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 436871	NM_003140.3(SRY):c.331C>T (p.Gln111Ter)	SRY (Q111*)	Single nucleotide variant (nonsense)	46,XX sex reversal 1 +1 more	GPathogenic
Select item 393470	NM_003140.3(SRY):c.227G>T (p.Arg76Leu)	SRY (R76L)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GLikely pathogenic
Select item 9756	NM_003140.3(SRY):c.380A>T (p.Tyr127Phe)	SRY (Y127F)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9755	NM_003140.3(SRY):c.284G>A (p.Gly95Glu)	SRY (G95E)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9754	NM_003140.3(SRY):c.53G>A (p.Ser18Asn)	SRY (S18N)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9753	NM_003140.3(SRY):c.4C>T (p.Gln2Ter)	SRY (Q2*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9752	NM_003140.3(SRY):c.397C>T (p.Arg133Trp)	SRY (R133W)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9751	NM_003140.3(SRY):c.12T>A (p.Tyr4Ter)	SRY (Y4*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9750	NM_003140.3(SRY):c.283G>C (p.Gly95Arg)	SRY (G95R)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9749	NM_003140.3(SRY):c.274A>T (p.Lys92Ter)	SRY (K92*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9748	NM_003140.3(SRY):c.209G>A (p.Trp70Ter)	SRY (W70*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9747	NM_003140.3(SRY):c.192G>A (p.Met64Ile)	SRY (M64I)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9746	NM_003140.3(SRY):c.203T>C (p.Ile68Thr)	SRY (I68T)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9745	NM_003140.3(SRY):c.320G>A (p.Trp107Ter)	SRY (W107*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9744	NM_003140.3(SRY):c.337G>A (p.Ala113Thr)	SRY (A113T)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9743	NM_003140.3(SRY):c.324del (p.Phe109fs)	SRY (F109fs)	Deletion (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 9742	NM_003140.3(SRY):c.317A>T (p.Lys106Ile)	SRY (K106I)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9741	NM_003140.3(SRY):c.270C>G (p.Ile90Met)	SRY (I90M)	Single nucleotide variant (missense variant)	46,XY true hermaphroditism, SRY-related +1 more	GPathogenic
Select item 9740	NM_003140.3(SRY):c.277C>T (p.Gln93Ter)	SRY (Q93*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9739	NM_003140.3(SRY):c.178G>C (p.Val60Leu)	SRY (V60L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9738	NM_003140.3(SRY):c.326T>C (p.Phe109Ser)	SRY (F109S)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9737	NM_003140.3(SRY):c.364_367del (p.Glu122fs)	SRY (E122fs)	Microsatellite (frameshift variant)	46,XY sex reversal 1	GPathogenic

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Links from MedGen

Items: 49