GSDME[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
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 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 149206	GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1	LOC129998102, LOC129998103 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 155575	GRCh38/hg38 7p15.3(chr7:24539631-24756793)x1	GSDME, LOC123924920 +12 more	Copy number loss	See cases	GUncertain significance
Select item 359819	NM_001127453.2(GSDME):c.*607A>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 359820	NM_001127453.2(GSDME):c.*583T>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359821	NM_001127453.2(GSDME):c.*537C>T	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359822	NM_001127453.2(GSDME):c.*527C>T	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GBenign
Select item 359823	NM_001127453.2(GSDME):c.*505del	GSDME	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GLikely benign
Select item 359824	NM_001127453.2(GSDME):c.481_485dup	GSDME	Duplication (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GLikely benign
Select item 359825	NM_001127453.2(GSDME):c.*481G>C	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GBenign
Select item 359826	NM_001127453.2(GSDME):c.*448T>C	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GBenign
Select item 359827	NM_001127453.2(GSDME):c.*429T>C	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GLikely benign
Select item 359828	NM_001127453.2(GSDME):c.*346G>C	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GLikely benign
Select item 359829	NM_001127453.2(GSDME):c.*333T>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359830	NM_001127453.2(GSDME):c.*326C>A	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359831	NM_001127453.2(GSDME):c.*321T>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GLikely benign
Select item 908334	NM_001127453.2(GSDME):c.*299A>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
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 359833	NM_001127453.2(GSDME):c.*260A>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 908335	NM_001127453.2(GSDME):c.*239T>C	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359834	NM_001127453.2(GSDME):c.224_227dup	GSDME	Duplication (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
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 908337	NM_001127453.2(GSDME):c.*81T>G	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GLikely benign
Select item 359835	NM_001127453.2(GSDME):c.*72C>T	GSDME	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GLikely benign
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 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 748690	NM_001127453.2(GSDME):c.1443T>C (p.Leu481=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 998480	NM_001127453.2(GSDME):c.1429T>G (p.Phe477Val)	GSDME (F313V +1 more)	Single nucleotide variant (missense variant)	not provided	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 425407	NM_004403.3(GSDME):c.1417G>A (p.Asp473Asn)	GSDME (D473N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179566	NM_001127453.2(GSDME):c.1416G>A (p.Lys472=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1680821	NM_001127453.2(GSDME):c.1405G>C (p.Val469Leu)	GSDME (V305L +1 more)	Single nucleotide variant (missense variant)	not provided	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 444717	NM_004403.3(GSDME):c.1363G>C (p.Ala455Pro)	GSDME (A455P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163031	NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser)	GSDME (F452S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 359838	NM_001127453.2(GSDME):c.1349G>A (p.Arg450His)	GSDME (R450H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 505547	NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met)	GSDME (R444M +1 more)	Single nucleotide variant (missense variant)	not specified	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 1680822	NM_001127453.2(GSDME):c.1306T>C (p.Leu436=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2121980	NM_001127453.2(GSDME):c.1284A>G (p.Val428=)	GSDME	Single nucleotide variant (synonymous variant)	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 163032	NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)	GSDME (D426del +1 more)	Microsatellite (inframe_deletion)	GSDME-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1680823	NM_001127453.2(GSDME):c.1278T>C (p.Asp426=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 228250	NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del	GSDME	Deletion	Rare genetic deafness	GLikely pathogenic
Select item 1680824	NM_001127453.2(GSDME):c.1257+20G>T	GSDME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 359840	NM_001127453.2(GSDME):c.1253A>G (p.His418Arg)	GSDME (H418R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
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 794579	NM_001127453.2(GSDME):c.1248G>A (p.Leu416=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 180085	NM_001127453.2(GSDME):c.1218T>C (p.Thr406=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 228556	NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser)	GSDME (G405S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517175	NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)	GSDME (L403P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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)	not specified +2 more	GBenign
Select item 44839	NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val)	GSDME (A400V +1 more)	Single nucleotide variant (missense variant)	not specified +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 517306	NM_001127453.2(GSDME):c.1197C>T (p.Ser399=)	GSDME	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 2684170	NM_001127453.2(GSDME):c.1184-6C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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

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