ClinVar for Gene (Select 1687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345761	NM_001127453.2(GSDME):c.823A>C (p.Ile275Leu)	GSDME (I111L +1 more)	Single nucleotide variant (missense variant)	GSDME-related disorder	GUncertain significance
Select item 3282952	NM_001127453.2(GSDME):c.863C>A (p.Ala288Glu)	GSDME (A124E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282951	NM_001127453.2(GSDME):c.904C>G (p.Leu302Val)	GSDME (L138V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282950	NM_001127453.2(GSDME):c.464T>C (p.Leu155Pro)	GSDME (L155P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3282949	NM_001127453.2(GSDME):c.132G>C (p.Trp44Cys)	GSDME (W44C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3282948	NM_001127453.2(GSDME):c.382C>G (p.Leu128Val)	GSDME (L128V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3282947	NM_001127453.2(GSDME):c.821G>A (p.Gly274Glu)	GSDME (G110E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245921	NC_000007.13:g.(?_24323410)_(25163738_?)dup	CYCS, GSDME +3 more	Duplication	not provided	GUncertain significance
Select item 3102841	NM_001127453.2(GSDME):c.956T>C (p.Phe319Ser)	GSDME (F155S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102840	NM_001127453.2(GSDME):c.848G>A (p.Ser283Asn)	GSDME (S283N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102839	NM_001127453.2(GSDME):c.740A>G (p.Lys247Arg)	GSDME (K247R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102838	NM_001127453.2(GSDME):c.434A>G (p.Gln145Arg)	GSDME (Q145R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102837	NM_001127453.2(GSDME):c.382C>T (p.Leu128Phe)	GSDME (L128F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102836	NM_001127453.2(GSDME):c.377A>C (p.Gln126Pro)	GSDME (Q126P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102835	NM_001127453.2(GSDME):c.322C>T (p.Arg108Cys)	GSDME (R108C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102834	NM_001127453.2(GSDME):c.295G>A (p.Val99Ile)	GSDME (V99I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102833	NM_001127453.2(GSDME):c.262G>A (p.Val88Met)	GSDME (V88M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102832	NM_001127453.2(GSDME):c.241G>A (p.Glu81Lys)	GSDME (E81K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102831	NM_001127453.2(GSDME):c.1418A>G (p.Asp473Gly)	GSDME (D473G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102830	NM_001127453.2(GSDME):c.1397T>C (p.Val466Ala)	GSDME (V302A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102829	NM_001127453.2(GSDME):c.1396G>A (p.Val466Met)	GSDME (V302M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102828	NM_001127453.2(GSDME):c.1342G>A (p.Val448Met)	GSDME (V448M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102827	NM_001127453.2(GSDME):c.1325C>T (p.Thr442Ile)	GSDME (T278I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102826	NM_001127453.2(GSDME):c.1261C>T (p.Arg421Cys)	GSDME (R421C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102824	NM_001127453.2(GSDME):c.1244C>T (p.Thr415Ile)	GSDME (T415I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 3061163	NM_001127453.2(GSDME):c.913C>A (p.Pro305Thr)	GSDME (P141T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023206	NM_001127453.2(GSDME):c.1008C>T (p.Ser336=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998925	NM_001127453.2(GSDME):c.1003G>T (p.Val335Phe)	GSDME (V171F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997732	NM_001127453.2(GSDME):c.529GAG[1] (p.Glu178del)	GSDME (E14del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2995521	NM_001127453.2(GSDME):c.78T>C (p.Asn26=)	GSDME	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984413	NM_001127453.2(GSDME):c.1274ATG[3] (p.Asp426_Gly427insAsp)	GSDME	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2976570	NM_001127453.2(GSDME):c.324C>T (p.Arg108=)	GSDME	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974912	NM_001127453.2(GSDME):c.549C>T (p.Ile183=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970893	NM_001127453.2(GSDME):c.576+12C>T	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965784	NM_001127453.2(GSDME):c.224C>T (p.Ser75Leu)	GSDME (S75L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2956070	NM_001127453.2(GSDME):c.697+18T>C	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955857	NM_001127453.2(GSDME):c.1115C>T (p.Pro372Leu)	GSDME (P208L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2892787	NM_001127453.2(GSDME):c.468C>T (p.Cys156=)	GSDME	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892639	NM_001127453.2(GSDME):c.349A>T (p.Thr117Ser)	GSDME (T117S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2885325	NM_001127453.2(GSDME):c.1192G>A (p.Asp398Asn)	GSDME (D234N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2882763	NM_001127453.2(GSDME):c.1067T>A (p.Leu356His)	GSDME (L192H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875499	NM_001127453.2(GSDME):c.1164C>T (p.Phe388=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872477	NM_001127453.2(GSDME):c.576+5G>A	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2856902	NM_001127453.2(GSDME):c.416T>G (p.Leu139Arg)	GSDME (L139R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855546	NM_001127453.2(GSDME):c.89A>G (p.Lys30Arg)	GSDME (K30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851380	NM_001127453.2(GSDME):c.404+13G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851070	NM_001127453.2(GSDME):c.887T>G (p.Phe296Cys)	GSDME (F296C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838836	NM_001127453.2(GSDME):c.689G>C (p.Gly230Ala)	GSDME (G66A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831342	NM_001127453.2(GSDME):c.1110_1114dup (p.Pro372fs)	GSDME (P208fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2831330	NM_001127453.2(GSDME):c.218T>A (p.Val73Glu)	GSDME (V73E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2789753	NM_001127453.2(GSDME):c.272C>T (p.Thr91Ile)	GSDME (T91I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2758356	NM_001127453.2(GSDME):c.426T>C (p.Pro142=)	GSDME	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2752540	NM_001127453.2(GSDME):c.188T>C (p.Ile63Thr)	GSDME (I63T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2730552	NM_001127453.2(GSDME):c.1009G>A (p.Gly337Ser)	GSDME (G173S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2712800	NM_001127453.2(GSDME):c.400G>A (p.Glu134Lys)	GSDME (E134K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684170	NM_001127453.2(GSDME):c.1184-6C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683784	NM_001127453.2(GSDME):c.1007G>A (p.Ser336Asn)	GSDME (S172N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657354	NM_001127453.2(GSDME):c.362AGG[1] (p.Glu122del)	GSDME (E122del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2657353	NM_001127453.2(GSDME):c.1259T>C (p.Leu420Pro)	GSDME (L256P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2597690	NM_001127453.2(GSDME):c.802A>G (p.Met268Val)	GSDME (M268V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2576755	NM_001127453.2(GSDME):c.698-3C>G	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2542062	NM_001127453.2(GSDME):c.1150A>G (p.Met384Val)	GSDME (M220V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530456	NM_001127453.2(GSDME):c.469G>A (p.Val157Ile)	GSDME (V157I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523966	NM_001127453.2(GSDME):c.577G>T (p.Val193Leu)	GSDME (V29L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504218	NM_001127453.2(GSDME):c.1085_1097dup (p.Leu367fs)	GSDME (L203fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2499821	NM_001127453.2(GSDME):c.997G>A (p.Asp333Asn)	GSDME (D169N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2498199	NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs)	GSDME (P208fs +1 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 5	GPathogenic
Select item 2490134	NM_001127453.2(GSDME):c.344T>G (p.Phe115Cys)	GSDME (F115C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486830	NM_001127453.2(GSDME):c.650T>C (p.Ile217Thr)	GSDME (I217T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470839	NM_001127453.2(GSDME):c.1454T>G (p.Leu485Arg)	GSDME (L321R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2444640	NM_001127453.2(GSDME):c.43G>A (p.Ala15Thr)	GSDME (A15T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443519	NM_001127453.2(GSDME):c.815C>T (p.Ala272Val)	GSDME (A108V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440749	NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)	GSDME (L317I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 2440748	NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)	GSDME (G242D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 2431826	NM_001127453.2(GSDME):c.868del (p.Leu290fs)	GSDME (L126fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 2430535	NM_001127453.2(GSDME):c.59T>C (p.Ile20Thr)	GSDME (I20T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425103	NC_000007.13:g.(?_24738645)_(25163738_?)dup	CYCS, GSDME +1 more	Duplication	not provided	GUncertain significance
Select item 2414886	NM_001127453.2(GSDME):c.90G>A (p.Lys30=)	GSDME	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2412955	NM_001127453.2(GSDME):c.1472T>C (p.Leu491Ser)	GSDME (L327S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189449	NM_001127453.2(GSDME):c.899C>T (p.Ala300Val)	GSDME (A136V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2181030	NM_001127453.2(GSDME):c.980T>G (p.Leu327Arg)	GSDME (L327R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136261	NM_001127453.2(GSDME):c.325G>C (p.Val109Leu)	GSDME (V109L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2134280	NM_001127453.2(GSDME):c.762C>T (p.Tyr254=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121980	NM_001127453.2(GSDME):c.1284A>G (p.Val428=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108199	NM_001127453.2(GSDME):c.1252C>T (p.His418Tyr)	GSDME (H254Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106901	NM_001127453.2(GSDME):c.955T>C (p.Phe319Leu)	GSDME (F319L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094852	NM_001127453.2(GSDME):c.845del (p.Pro281_Leu282insTer)	GSDME	Deletion (nonsense)	not provided	GUncertain significance
Select item 2085792	NM_001127453.2(GSDME):c.765G>A (p.Leu255=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075546	NM_001127453.2(GSDME):c.314G>A (p.Gly105Asp)	GSDME (G105D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063376	NM_001127453.2(GSDME):c.1049_1103dup (p.Gln368fs)	GSDME (Q204fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2056903	NM_001127453.2(GSDME):c.863C>G (p.Ala288Gly)	GSDME (A288G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037567	NM_001127453.2(GSDME):c.698-3C>A	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2025970	NM_001127453.2(GSDME):c.29T>A (p.Leu10His)	GSDME (L10H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979925	NM_001127453.2(GSDME):c.1348C>G (p.Arg450Gly)	GSDME (R286G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978243	NM_001127453.2(GSDME):c.759C>T (p.Val253=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936081	NM_001127453.2(GSDME):c.1028C>T (p.Ala343Val)	GSDME (A179V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918123	NM_001127453.2(GSDME):c.816G>C (p.Ala272=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913303	NM_001127453.2(GSDME):c.275T>C (p.Leu92Pro)	GSDME (L92P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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