"GeneDx"[submitter] AND "GSDME"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 359832	NM_001127453.2(GSDME):c.*273C>T	GSDME	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 908336	NM_001127453.2(GSDME):c.*87A>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GBenign
Select item 1206444	NM_001127453.2(GSDME):c.*32G>A	GSDME	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 359836	NM_001127453.2(GSDME):c.*30C>T	GSDME	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359837	NM_001127453.2(GSDME):c.*24G>A	GSDME	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 748690	NM_001127453.2(GSDME):c.1443T>C (p.Leu481=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 359838	NM_001127453.2(GSDME):c.1349G>A (p.Arg450His)	GSDME (R450H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GUncertain significance
Select item 359839	NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys)	GSDME (R450C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GBenign
Select item 44841	NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr)	GSDME (F445Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1311109	NM_001127453.2(GSDME):c.1292T>C (p.Leu431Pro)	GSDME (L267P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707910	NM_001127453.2(GSDME):c.1289A>T (p.Asp430Val)	GSDME (D266V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309695	NM_001127453.2(GSDME):c.1258-2_1267del	GSDME	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 452856	NM_001127453.2(GSDME):c.1264G>A (p.Ala422Thr)	GSDME (A422T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220484	NM_001127453.2(GSDME):c.1258-281C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296887	NM_001127453.2(GSDME):c.1258-304A>G	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270036	NM_001127453.2(GSDME):c.1257+251C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196175	NM_001127453.2(GSDME):c.1257+111T>G	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517175	NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)	GSDME (L403P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 804739	NM_001127453.2(GSDME):c.1199_1200inv (p.Ala400Val)	GSDME (A400V +1 more)	Inversion (missense variant)	not provided	GBenign
Select item 44840	NM_001127453.2(GSDME):c.1200A>G (p.Ala400=)	GSDME	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign
Select item 44839	NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val)	GSDME (A400V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign
Select item 502187	NM_004403.3(GSDME):c.1198G>A (p.Ala400Thr)	GSDME (A400T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 225338	NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer)	GSDME	Duplication (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1227018	NM_001127453.2(GSDME):c.1184-62G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279431	NM_001127453.2(GSDME):c.1184-101C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280942	NM_001127453.2(GSDME):c.1184-124G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282340	NM_001127453.2(GSDME):c.1184-133G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217924	NM_001127453.2(GSDME):c.1184-208C>G	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197715	NM_001127453.2(GSDME):c.1184-305C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230126	NM_001127453.2(GSDME):c.1183+188T>G	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250136	NM_001127453.2(GSDME):c.1183+186T>C	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272661	NM_001127453.2(GSDME):c.1183+184T>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183729	NM_001127453.2(GSDME):c.1183+177T>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294466	NM_001127453.2(GSDME):c.1183+170C>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257028	NM_001127453.2(GSDME):c.1183+168C>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193253	NM_001127453.2(GSDME):c.1183+135G>C	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190270	NM_001127453.2(GSDME):c.1183+86G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675658	NM_001127453.2(GSDME):c.1183+75G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673342	NM_001127453.2(GSDME):c.1183+17A>G	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 44838	NM_001127453.2(GSDME):c.1183+9A>T	GSDME	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign/Likely benign
Select item 1810155	NM_001127453.2(GSDME):c.1183+3A>T	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 178332	NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)	GSDME	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178334	NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)	GSDME (G373D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1219084	NM_001127453.2(GSDME):c.1100T>C (p.Leu367Ser)	GSDME (L203S +1 more)	Single nucleotide variant (missense variant)	not provided	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 3375934	NM_001127453.2(GSDME):c.1051C>T (p.Arg351Trp)	GSDME (R187W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513146	NM_001127453.2(GSDME):c.1017G>A (p.Ser339=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2730552	NM_001127453.2(GSDME):c.1009G>A (p.Gly337Ser)	GSDME (G173S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 179997	NM_001127453.2(GSDME):c.991-21TTC[2]	GSDME	Microsatellite (intron variant)	not provided +2 more	GPathogenic
Select item 1244037	NM_001127453.2(GSDME):c.991-27T>C	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187856	NM_001127453.2(GSDME):c.991-31G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683013	NM_001127453.2(GSDME):c.991-70G>C	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280777	NM_001127453.2(GSDME):c.991-252C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261222	NM_001127453.2(GSDME):c.991-273G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209301	NM_001127453.2(GSDME):c.991-331C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222627	NM_001127453.2(GSDME):c.990+250_990+251del	GSDME	Deletion (intron variant)	not provided	GBenign
Select item 1296758	NM_001127453.2(GSDME):c.990+235G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203447	NM_001127453.2(GSDME):c.980T>C (p.Leu327Pro)	GSDME (L163P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911173	NM_001127453.2(GSDME):c.939C>T (p.Ile313=)	GSDME	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GLikely benign
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 359844	NM_001127453.2(GSDME):c.864G>A (p.Ala288=)	GSDME	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 44848	NM_001127453.2(GSDME):c.863-6T>C	GSDME	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1239126	NM_001127453.2(GSDME):c.863-37C>T	GSDME	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1205687	NM_001127453.2(GSDME):c.863-76A>G	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262784	NM_001127453.2(GSDME):c.862+249C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276938	NM_001127453.2(GSDME):c.862+87del	GSDME	Deletion (intron variant)	not provided	GBenign
Select item 290801	NM_004403.3(GSDME):c.823A>G (p.Ile275Val)	GSDME (I275V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 3365946	NM_001127453.2(GSDME):c.745A>G (p.Arg249Gly)	GSDME (R249G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367500	NM_001127453.2(GSDME):c.737A>G (p.Asn246Ser)	GSDME (N246S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680249	NM_001127453.2(GSDME):c.713G>A (p.Arg238Gln)	GSDME (R74Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 228558	NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)	GSDME (R238* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2576755	NM_001127453.2(GSDME):c.698-3C>G	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1328603	NM_001127453.2(GSDME):c.698-29C>G	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234344	NM_001127453.2(GSDME):c.698-213del	GSDME	Deletion (intron variant)	not provided	GBenign
Select item 1296772	NM_001127453.2(GSDME):c.697+230T>C	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215126	NM_001127453.2(GSDME):c.697+191dup	GSDME	Duplication (intron variant)	not provided	GLikely benign
Select item 1290566	NM_001127453.2(GSDME):c.697+126A>G	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222441	NM_001127453.2(GSDME):c.697+33_697+62dup	GSDME	Duplication (intron variant)	not provided	GBenign
Select item 1188442	NM_001127453.2(GSDME):c.697+17A>G	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 546187	NM_001127453.2(GSDME):c.693G>C (p.Gln231His)	GSDME (Q231H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 178333	NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser)	GSDME (G220S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign
Select item 911374	NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu)	GSDME (P212L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GUncertain significance
Select item 44847	NM_001127453.2(GSDME):c.619G>A (p.Val207Met)	GSDME (V207M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign
Select item 359849	NM_001127453.2(GSDME):c.612C>T (p.Asp204=)	GSDME	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 359850	NM_001127453.2(GSDME):c.611A>T (p.Asp204Val)	GSDME (D204V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GConflicting classifications of pathogenicity
Select item 929958	NM_001127453.2(GSDME):c.587C>T (p.Thr196Met)	GSDME (T196M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 44846	NM_001127453.2(GSDME):c.577-15C>T	GSDME	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign/Likely benign
Select item 1247235	NM_001127453.2(GSDME):c.577-202G>A	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282782	NM_001127453.2(GSDME):c.577-209G>T	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228944	NM_001127453.2(GSDME):c.577-237C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234153	NM_001127453.2(GSDME):c.577-248T>G	GSDME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228933	NM_001127453.2(GSDME):c.576+247dup	GSDME	Duplication (intron variant)	not provided	GBenign
Select item 1262918	NM_001127453.2(GSDME):c.576+222TA[2]	GSDME	Microsatellite (intron variant)	not provided	GBenign
Select item 1274977	NM_001127453.2(GSDME):c.576+101C>T	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254184	NM_001127453.2(GSDME):c.576+51C>G	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GLikely benign

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