2992[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1264839	NC_000003.12:g.148991092_148991103del	GYG1	Deletion	not provided	GBenign
Select item 1291014	NC_000003.12:g.148991343C>T	GYG1, LOC129937737	Single nucleotide variant	not provided	GBenign
Select item 1214618	NC_000003.12:g.148991371dup	GYG1, LOC129937737	Duplication	not provided	GLikely benign
Select item 1238907	NC_000003.12:g.148991372G>C	GYG1, LOC129937737	Single nucleotide variant	not provided	GBenign
Select item 1196812	NC_000003.12:g.148991372_148991373insCAGCC	GYG1, LOC129937737	Insertion	not provided	GLikely benign
Select item 1189350	NC_000003.12:g.148991479A>G	GYG1, LOC129937737	Single nucleotide variant	not provided	GLikely benign
Select item 1260828	NC_000003.12:g.148991537G>A	GYG1, LOC129937737	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1191228	NM_004130.4(GYG1):c.-73C>G	GYG1, LOC129937737	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 419783	NM_004130.4(GYG1):c.-40del	GYG1, LOC129937737	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 1508529	NM_004130.4(GYG1):c.2T>A (p.Met1Lys)	GYG1, LOC129937737 (M1K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1477393	NM_004130.4(GYG1):c.3G>C (p.Met1Ile)	GYG1, LOC129937737 (M1I)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 1941274	NM_004130.4(GYG1):c.5C>G (p.Thr2Arg)	GYG1, LOC129937737 (T2R)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 666973	NM_004130.4(GYG1):c.7+1G>A	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 2637494	NM_004130.4(GYG1):c.7+2T>C	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Glycogen storage disease XV +1 more	GLikely pathogenic
Select item 1124324	NM_004130.4(GYG1):c.7+8C>T	GYG1, LOC129937737	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2169617	NM_004130.4(GYG1):c.7+17C>G	GYG1, LOC129937737	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 675513	NM_004130.4(GYG1):c.7+96C>G	GYG1, LOC129937737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672471	NM_004130.4(GYG1):c.7+316G>A	GYG1, LOC129937737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539855	NM_004130.4(GYG1):c.8-15T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2064028	NM_004130.4(GYG1):c.8-13T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1946636	NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)	GYG1 (Q4*)	Single nucleotide variant (nonsense)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2926005	NM_004130.4(GYG1):c.26dup (p.Thr10fs)	GYG1 (T10fs)	Duplication (frameshift variant)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2924388	NM_004130.4(GYG1):c.25C>T (p.Leu9=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1487482	NM_004130.4(GYG1):c.25C>G (p.Leu9Val)	GYG1 (L9V)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1492054	NM_004130.4(GYG1):c.36C>G (p.Asn12Lys)	GYG1 (N12K)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 780414	NM_004130.4(GYG1):c.45C>T (p.Tyr15=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1632432	NM_004130.4(GYG1):c.46G>A (p.Ala16Thr)	GYG1 (A16T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1471209	NM_004130.4(GYG1):c.55G>T (p.Ala19Ser)	GYG1 (A19S)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 2093928	NM_004130.4(GYG1):c.56C>T (p.Ala19Val)	GYG1 (A19V)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1618361	NM_004130.4(GYG1):c.60G>T (p.Leu20=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 682417	NM_004130.4(GYG1):c.60G>A (p.Leu20=)	GYG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1428426	NM_004130.4(GYG1):c.61G>A (p.Val21Ile)	GYG1 (V21I)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 935412	NM_004130.4(GYG1):c.66G>A (p.Leu22=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1486465	NM_004130.4(GYG1):c.67G>C (p.Gly23Arg)	GYG1 (G23R)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 969811	NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)	GYG1 (G23E)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 422087	NM_004130.4(GYG1):c.78del (p.Lys27fs)	GYG1 (K27fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2045936	NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)	GYG1 (Q28*)	Single nucleotide variant (nonsense)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2949894	NM_004130.4(GYG1):c.93dup (p.Thr32fs)	GYG1 (T32fs)	Duplication (frameshift variant)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1355339	NM_004130.4(GYG1):c.98_100delinsATT (p.Arg33_Arg34delinsAsnTrp)	GYG1	Indel (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 542121	NM_004130.4(GYG1):c.98G>A (p.Arg33Lys)	GYG1 (R33K)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +2 more	GConflicting classifications of pathogenicity
Select item 2936110	NM_004130.4(GYG1):c.105G>A (p.Leu35=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2926801	NM_004130.4(GYG1):c.108C>T (p.Val36=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1468775	NM_004130.4(GYG1):c.109G>A (p.Val37Met)	GYG1 (V37M)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1953054	NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)	GYG1 (L38F)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 381418	NM_004130.4(GYG1):c.114C>T (p.Leu38=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +2 more	GBenign
Select item 2050904	NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)	GYG1 (A39T)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 1501189	NM_004130.4(GYG1):c.124C>A (p.Gln42Lys)	GYG1 (Q42K)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1640508	NM_004130.4(GYG1):c.129C>T (p.Val43=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1421188	NM_004130.4(GYG1):c.130T>C (p.Ser44Pro)	GYG1 (S44P)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 383918	NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)	GYG1 (S46C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1938555	NM_004130.4(GYG1):c.143+3G>T	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 162661	NM_004130.4(GYG1):c.143+3G>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +2 more	GPathogenic/Likely pathogenic
Select item 385030	NM_004130.4(GYG1):c.143+11C>T	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +2 more	GLikely benign
Select item 1560035	NM_004130.4(GYG1):c.143+12G>A	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1906546	NM_004130.4(GYG1):c.143+19C>A	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1196915	NM_004130.4(GYG1):c.143+111T>C	GYG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235732	NM_004130.4(GYG1):c.143+191A>G	GYG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291314	NM_004130.4(GYG1):c.143+250del	GYG1	Deletion (intron variant)	not provided	GBenign
Select item 1262959	NM_004130.4(GYG1):c.144-64C>G	GYG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253731	NM_004130.4(GYG1):c.144-29G>A	GYG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622920	NM_004130.4(GYG1):c.144-19C>A	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2940837	NM_004130.4(GYG1):c.144-16G>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2931161	NM_004130.4(GYG1):c.144-11T>G	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 569450	NM_004130.4(GYG1):c.154G>T (p.Glu52Ter)	GYG1 (E52*)	Single nucleotide variant (nonsense)	Glycogen storage disease XV +1 more	GPathogenic
Select item 380453	NM_004130.4(GYG1):c.159A>G (p.Thr53=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +3 more	GBenign
Select item 1977751	NM_004130.4(GYG1):c.160G>T (p.Val54Phe)	GYG1 (V54F)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1440739	NM_004130.4(GYG1):c.171A>T (p.Glu57Asp)	GYG1 (E57D)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1608550	NM_004130.4(GYG1):c.174C>T (p.Val58=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1428936	NM_004130.4(GYG1):c.175A>G (p.Ile59Val)	GYG1 (I59V)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1393348	NM_004130.4(GYG1):c.179T>C (p.Met60Thr)	GYG1 (M60T)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2196052	NM_004130.4(GYG1):c.183A>G (p.Val61=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2938241	NM_004130.4(GYG1):c.201C>A (p.Gly67=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 710698	NM_004130.4(GYG1):c.201C>T (p.Gly67=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +2 more	GLikely benign
Select item 1521178	NM_004130.4(GYG1):c.203A>G (p.Asp68Gly)	GYG1 (D68G)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1045088	NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)	GYG1 (S69C)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2288735	NM_004130.4(GYG1):c.209C>T (p.Ala70Val)	GYG1 (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1392356	NM_004130.4(GYG1):c.220T>G (p.Leu74Val)	GYG1 (L74V)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2952434	NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)	GYG1 (L74*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1163444	NM_004130.4(GYG1):c.223A>G (p.Met75Val)	GYG1 (M75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2950674	NM_004130.4(GYG1):c.234A>G (p.Pro78=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2952529	NM_004130.4(GYG1):c.240G>A (p.Leu80=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1311362	NM_004130.4(GYG1):c.244_246del (p.Val82del)	GYG1 (V82del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1349925	NM_004130.4(GYG1):c.248C>G (p.Thr83Arg)	GYG1 (T83R)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 450886	NM_004130.4(GYG1):c.248C>A (p.Thr83Lys)	GYG1 (T83K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5954	NM_004130.4(GYG1):c.248C>T (p.Thr83Met)	GYG1 (T83M)	Single nucleotide variant (missense variant)	Glycogen storage disease XV	GPathogenic
Select item 1598457	NM_004130.4(GYG1):c.249G>A (p.Thr83=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2079553	NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)	GYG1 (L84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1596979	NM_004130.4(GYG1):c.252G>A (p.Leu84=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2225869	NM_004130.4(GYG1):c.256A>G (p.Lys86Glu)	GYG1 (K86E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2023572	NM_004130.4(GYG1):c.261C>T (p.Leu87=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2300257	NM_004130.4(GYG1):c.264C>A (p.His88Gln)	GYG1 (H88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 382419	NM_004130.4(GYG1):c.267C>T (p.Cys89=)	GYG1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2079311	NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)	GYG1 (S91L)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1935545	NM_004130.4(GYG1):c.273G>A (p.Ser91=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1524523	NM_004130.4(GYG1):c.284A>G (p.Tyr95Cys)	GYG1 (Y95C)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1613997	NM_004130.4(GYG1):c.294T>C (p.Cys98=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign

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