ClinVar for Gene (Select 5119) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144431	NM_002768.5(CHMP1A):c.*34G>T	CHMP1A (R202L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3144429	NM_002768.5(CHMP1A):c.558G>A (p.Gln186=)	CHMP1A (A180T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3144427	NM_002768.5(CHMP1A):c.366G>A (p.Leu122=)	CHMP1A (G116R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3144426	NM_002768.5(CHMP1A):c.304A>G (p.Thr102Ala)	CHMP1A (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144425	NM_002768.5(CHMP1A):c.260A>T (p.Lys87Met)	CHMP1A (Q80H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144424	NM_002768.5(CHMP1A):c.241A>T (p.Thr81Ser)	CHMP1A (D74V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144423	NM_002768.5(CHMP1A):c.203G>A (p.Arg68His)	CHMP1A (R68H)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3144422	NM_002768.5(CHMP1A):c.201C>T (p.Ser67=)	CHMP1A (P61S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3144421	NM_002768.5(CHMP1A):c.161G>A (p.Arg54His)	CHMP1A (R54H)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3144420	NM_002768.5(CHMP1A):c.153C>T (p.Asn51=)	CHMP1A (R45C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3065748	NM_002768.5(CHMP1A):c.65C>T (p.Ala22Val)	CHMP1A (A22V)	Single nucleotide variant (synonymous variant +2 more)	Pontocerebellar hypoplasia type 8	GUncertain significance
Select item 3063468	GRCh37/hg19 16q24.3(chr16:89692538-89740609)x1	CHMP1A, DPEP1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3037431	NM_002768.5(CHMP1A):c.*121G>C	CHMP1A (R231P)	Single nucleotide variant (missense variant +2 more)	CHMP1A-related condition	GLikely benign
Select item 3008395	NM_002768.5(CHMP1A):c.528C>T (p.Gly176=)	CHMP1A (R170*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2998287	NM_002768.5(CHMP1A):c.219C>A (p.Ala73=)	CHMP1A (L67I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2988885	NM_002768.5(CHMP1A):c.191G>A (p.Arg64Gln)	CHMP1A (R64Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2970291	NM_002768.5(CHMP1A):c.286C>T (p.Leu96=)	CHMP1A (P89L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2963914	NM_002768.5(CHMP1A):c.345C>T (p.Phe115=)	CHMP1A (R109*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2957551	NM_002768.5(CHMP1A):c.285C>T (p.Ala95=)	CHMP1A (P89S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2955992	NM_002768.5(CHMP1A):c.426G>A (p.Pro142=)	CHMP1A (A136T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2912469	NM_002768.5(CHMP1A):c.333G>A (p.Val111=)	CHMP1A (D105N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2905714	NM_002768.5(CHMP1A):c.105+10T>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886725	NM_002768.5(CHMP1A):c.382-6C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844756	NM_002768.5(CHMP1A):c.106-12del	CHMP1A	Deletion (intron variant)	not provided	GBenign
Select item 2806601	NM_002768.5(CHMP1A):c.303C>T (p.Ser101=)	CHMP1A (H95Y)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2797076	NM_002768.5(CHMP1A):c.123T>C (p.Asn41=)	CHMP1A (C35R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2779956	NM_002768.5(CHMP1A):c.381+17C>T	CHMP1A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2692473	NM_002768.5(CHMP1A):c.84G>A (p.Ala28=)	CHMP1A (G22R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2684824	GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3	CDK10, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2682217	NM_002768.5(CHMP1A):c.160C>T (p.Arg54Cys)	CHMP1A (P47L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2647125	NM_002768.5(CHMP1A):c.106-11G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647124	NM_002768.5(CHMP1A):c.252+923T>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647123	NM_002768.5(CHMP1A):c.252+937G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647122	NM_002768.5(CHMP1A):c.252+965T>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647121	NM_002768.5(CHMP1A):c.253-327G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647120	NM_002768.5(CHMP1A):c.253-249G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647119	NM_002768.5(CHMP1A):c.253-222G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647118	NM_002768.5(CHMP1A):c.*68C>G	CHMP1A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2627294	NM_002768.5(CHMP1A):c.202C>T (p.Arg68Cys)	CHMP1A (P61L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623307	NM_002768.5(CHMP1A):c.51G>C (p.Lys17Asn)	CHMP1A (K17N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594876	NM_002768.5(CHMP1A):c.380C>T (p.Ser127Leu)	CHMP1A (S127L)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2548406	NM_002768.5(CHMP1A):c.*57C>T	CHMP1A (P210S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2535102	NM_002768.5(CHMP1A):c.432G>A (p.Glu144=)	CHMP1A (A138T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515254	NM_002768.5(CHMP1A):c.405G>A (p.Ser135=)	CHMP1A (G129S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2501136	NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)	CHMP1A (P84L +1 more)	Single nucleotide variant (missense variant +2 more)	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 2485651	NM_002768.5(CHMP1A):c.577G>C (p.Ala193Pro)	CHMP1A (R186P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442121	NM_002768.5(CHMP1A):c.28-2A>G	CHMP1A	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 8	GLikely pathogenic
Select item 2425847	NC_000016.9:g.(?_89167090)_(89883023_?)dup	ACSF3, ANKRD11 +15 more	Duplication	KBG syndrome	GUncertain significance
Select item 2425843	NC_000016.9:g.(?_89371594)_(89730828_?)dup	CHMP1A, CPNE7 +6 more	Duplication	KBG syndrome	GUncertain significance
Select item 2424532	NC_000016.9:g.(?_89334886)_(89723996_?)dup	ANKRD11, CPNE7 +5 more	Duplication	not provided	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422422	NC_000016.9:g.(?_89556653)_(89851392_?)dup	ANKRD11, CDK10 +10 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422419	NC_000016.9:g.(?_89712474)_(89866066_?)del	FANCA, CDK10 +5 more	Deletion	Fanconi anemia	GPathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2409788	NM_002768.5(CHMP1A):c.32C>T (p.Thr11Met)	CHMP1A (T11M)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2408498	NM_002768.5(CHMP1A):c.*10G>A	CHMP1A (R194H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403320	NM_002768.5(CHMP1A):c.321G>A (p.Lys107=)	CHMP1A (G101S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2360815	NM_002768.5(CHMP1A):c.111T>C (p.Leu37=)	CHMP1A (S31P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2337489	NM_002768.5(CHMP1A):c.310G>A (p.Asp104Asn)	CHMP1A (D104N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319516	NM_002768.5(CHMP1A):c.378A>G (p.Thr126=)	CHMP1A (I120V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2282797	NM_002768.5(CHMP1A):c.327C>G (p.Ser109=)	CHMP1A (L103V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2279006	NM_002768.5(CHMP1A):c.262A>T (p.Asn88Tyr)	CHMP1A (E81V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270472	NM_002768.5(CHMP1A):c.*109C>T	CHMP1A (A227V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248794	NM_002768.5(CHMP1A):c.587A>G (p.Asn196Ser)	CHMP1A (N196S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230561	NM_002768.5(CHMP1A):c.*9C>T	CHMP1A (R194C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2200740	NM_002768.5(CHMP1A):c.404C>T (p.Ser135Leu)	CHMP1A (S135L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2171914	NM_002768.5(CHMP1A):c.542G>A (p.Arg181His)	CHMP1A (R181H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2170816	NM_002768.5(CHMP1A):c.522C>T (p.Ala174=)	CHMP1A (R168C)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2168807	NM_002768.5(CHMP1A):c.297C>T (p.Ala99=)	CHMP1A (P93S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2161650	NM_002768.5(CHMP1A):c.423G>A (p.Thr141=)	CHMP1A (A135T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2160565	NM_002768.5(CHMP1A):c.105+8C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145647	NM_002768.5(CHMP1A):c.175G>A (p.Gly59Ser)	CHMP1A (R52K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134869	NM_002768.5(CHMP1A):c.513C>T (p.Gly171=)	CHMP1A (R165C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2132359	NM_002768.5(CHMP1A):c.252+17_252+18insA	CHMP1A	Insertion (intron variant)	not provided	GLikely benign
Select item 2126725	NM_002768.5(CHMP1A):c.211G>A (p.Ala71Thr)	CHMP1A (A71T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2106069	NM_002768.5(CHMP1A):c.28-11C>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098907	NM_002768.5(CHMP1A):c.570-17C>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049099	NM_002768.5(CHMP1A):c.462C>T (p.Ala154=)	CHMP1A (R148*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2045414	NM_002768.5(CHMP1A):c.489C>A (p.Asp163Glu)	CHMP1A (P157T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2001379	NM_002768.5(CHMP1A):c.8-5T>C	CHMP1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990411	NM_002768.5(CHMP1A):c.252+9T>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988436	NM_002768.5(CHMP1A):c.253-18C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1964974	NM_002768.5(CHMP1A):c.253-14C>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940824	NM_002768.5(CHMP1A):c.370G>A (p.Val124Ile)	CHMP1A (R117H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940731	NM_002768.5(CHMP1A):c.516C>T (p.Ala172=)	CHMP1A (L166F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1936902	NM_002768.5(CHMP1A):c.488A>G (p.Asp163Gly)	CHMP1A (D163G)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1933073	NM_002768.5(CHMP1A):c.514G>A (p.Ala172Thr)	CHMP1A (A172T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921996	NM_002768.5(CHMP1A):c.106-17T>C	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916569	NM_002768.5(CHMP1A):c.569+20C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902110	NM_002768.5(CHMP1A):c.459C>T (p.Ile153=)	CHMP1A (R147C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1898431	NM_002768.5(CHMP1A):c.106-12C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807941	GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1629762	NM_002768.5(CHMP1A):c.384G>A (p.Val128=)	CHMP1A (D122N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1595723	NM_002768.5(CHMP1A):c.28-6G>A	CHMP1A	Single nucleotide variant (intron variant)	CHMP1A-related condition +1 more	GLikely benign
Select item 1545276	NM_002768.5(CHMP1A):c.382-9T>C	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1521689	NM_002768.5(CHMP1A):c.154G>A (p.Ala52Thr)	CHMP1A (R45H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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