ClinVar for Gene (Select 5064) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304127	NM_002579.3(PALM):c.758C>T (p.Ala253Val)	PALM (A209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242674	NC_000019.9:g.(?_731075)_(746814_?)dup	PALM	Duplication	not provided	GUncertain significance
Select item 3242673	NC_000019.9:g.(?_726118)_(746814_?)dup	PALM	Duplication	not provided	GUncertain significance
Select item 3208136	NM_002579.3(PALM):c.97C>T (p.Arg33Trp)	PALM (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208134	NM_002579.3(PALM):c.670A>C (p.Ile224Leu)	PALM (I180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208133	NM_002579.3(PALM):c.1093G>A (p.Glu365Lys)	PALM (E365K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3011734	NM_002579.3(PALM):c.138+11G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009911	NM_002579.3(PALM):c.421-14C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002212	NM_002579.3(PALM):c.229G>A (p.Asp77Asn)	PALM (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992615	NM_002579.3(PALM):c.458A>G (p.Asn153Ser)	PALM (N153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991407	NM_002579.3(PALM):c.138+3A>G	PALM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990553	NM_002579.3(PALM):c.634+13C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990118	NM_002579.3(PALM):c.32A>C (p.Gln11Pro)	PALM (Q11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985690	NM_002579.3(PALM):c.844G>A (p.Glu282Lys)	PALM (E238K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982106	NM_002579.3(PALM):c.491T>C (p.Met164Thr)	PALM (M164T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978203	NM_002579.3(PALM):c.245G>A (p.Arg82Gln)	PALM (R82Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976604	NM_002579.3(PALM):c.442+9T>C	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970264	NM_002579.3(PALM):c.693G>A (p.Glu231=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967681	NM_002579.3(PALM):c.5+12C>G	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962481	NM_002579.3(PALM):c.691G>A (p.Glu231Lys)	PALM (E187K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961753	NM_002579.3(PALM):c.426G>A (p.Pro142=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960160	NM_002579.3(PALM):c.952C>T (p.Leu318=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918805	NM_002579.3(PALM):c.138+5G>A	PALM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2916329	NM_002579.3(PALM):c.344C>T (p.Pro115Leu)	PALM (P115L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912138	NM_002579.3(PALM):c.978G>C (p.Ala326=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904625	NM_002579.3(PALM):c.244C>T (p.Arg82Trp)	PALM (R82W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902805	NM_002579.3(PALM):c.575C>T (p.Thr192Met)	PALM (T192M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894355	NM_002579.3(PALM):c.860C>T (p.Pro287Leu)	PALM (P243L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886066	NM_002579.3(PALM):c.861G>A (p.Pro287=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885722	NM_002579.3(PALM):c.543G>C (p.Val181=)	PALM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885637	NM_002579.3(PALM):c.717G>A (p.Ala239=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877995	NM_002579.3(PALM):c.658G>T (p.Ala220Ser)	PALM (A176S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873300	NM_002579.3(PALM):c.1033G>A (p.Gly345Ser)	PALM (G301S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873294	NM_002579.3(PALM):c.634+19del	PALM	Deletion (intron variant)	not provided	GBenign
Select item 2866366	NM_002579.3(PALM):c.89A>C (p.Asn30Thr)	PALM (N30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834120	NM_002579.3(PALM):c.903C>G (p.Ile301Met)	PALM (I257M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820487	NM_002579.3(PALM):c.741A>C (p.Ala247=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815988	NM_002579.3(PALM):c.507G>A (p.Met169Ile)	PALM (M169I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2807193	NM_002579.3(PALM):c.58-9T>C	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795187	NM_002579.3(PALM):c.963A>G (p.Gln321=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793485	NM_002579.3(PALM):c.614T>C (p.Val205Ala)	PALM (V205A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790570	NM_002579.3(PALM):c.933G>A (p.Glu311=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779553	NM_002579.3(PALM):c.456C>T (p.Ser152=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769445	NM_002579.3(PALM):c.57+20C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766124	NM_002579.3(PALM):c.859C>G (p.Pro287Ala)	PALM (P287A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765291	NM_002579.3(PALM):c.974C>T (p.Thr325Met)	PALM (T325M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2759009	NM_002579.3(PALM):c.85G>C (p.Glu29Gln)	PALM (E29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743348	NM_002579.3(PALM):c.431G>T (p.Gly144Val)	PALM (G144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738107	NM_002579.3(PALM):c.978G>A (p.Ala326=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730386	NM_002579.3(PALM):c.921C>T (p.Asn307=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728968	NM_002579.3(PALM):c.513G>A (p.Ser171=)	PALM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722866	NM_002579.3(PALM):c.299G>A (p.Arg100His)	PALM (R100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721359	NM_002579.3(PALM):c.95G>A (p.Arg32His)	PALM (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721127	NM_002579.3(PALM):c.443-6G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717757	NM_002579.3(PALM):c.583C>T (p.Pro195Ser)	PALM (P195S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698036	NM_002579.3(PALM):c.749C>T (p.Thr250Met)	PALM (T206M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693789	NM_002579.3(PALM):c.737A>T (p.Glu246Val)	PALM (E202V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2607948	NM_002579.3(PALM):c.996A>C (p.Glu332Asp)	PALM (E332D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595043	NM_002579.3(PALM):c.721G>A (p.Glu241Lys)	PALM (E197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559596	NM_002579.3(PALM):c.739G>A (p.Ala247Thr)	PALM (A203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536432	NM_002579.3(PALM):c.752C>T (p.Ala251Val)	PALM (A251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529878	NM_002579.3(PALM):c.667G>A (p.Gly223Arg)	PALM (G223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520071	NM_002579.3(PALM):c.574A>T (p.Thr192Ser)	PALM (T192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490703	NM_002579.3(PALM):c.772G>C (p.Gly258Arg)	PALM (G214R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488747	NM_002579.3(PALM):c.77C>T (p.Ala26Val)	PALM (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424487	NC_000019.9:g.(?_746265)_(746814_?)dup	PALM	Duplication	not provided	GUncertain significance
Select item 2424486	NC_000019.9:g.(?_740332)_(740503_?)del	PALM	Deletion	not provided	GUncertain significance
Select item 2424485	NC_000019.9:g.(?_709147)_(709171_?)del	PALM	Deletion	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2413624	NM_002579.3(PALM):c.6-4G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2403340	NM_002579.3(PALM):c.706A>G (p.Ile236Val)	PALM (I192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357914	NM_002579.3(PALM):c.874C>T (p.Pro292Ser)	PALM (P248S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330548	NM_002579.3(PALM):c.881A>C (p.Gln294Pro)	PALM (Q250P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326471	NM_002579.3(PALM):c.619G>A (p.Glu207Lys)	PALM (E207K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2313768	NM_002579.3(PALM):c.937G>A (p.Glu313Lys)	PALM (E269K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312082	NM_002579.3(PALM):c.635T>G (p.Val212Gly)	PALM (V212G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311153	NM_002579.3(PALM):c.430G>A (p.Gly144Ser)	PALM (G144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301416	NM_002579.3(PALM):c.359C>A (p.Ala120Asp)	PALM (A120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296474	NM_002579.3(PALM):c.70C>T (p.Arg24Trp)	PALM (R24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218990	NM_002579.3(PALM):c.695T>G (p.Val232Gly)	PALM (V188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208844	NM_002579.3(PALM):c.446A>T (p.Lys149Met)	PALM (K149M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2207327	NM_002579.3(PALM):c.791C>T (p.Ala264Val)	PALM (A220V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2189989	NM_002579.3(PALM):c.809G>A (p.Arg270Gln)	PALM (R226Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2185003	NM_002579.3(PALM):c.710A>T (p.His237Leu)	PALM (H237L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183899	NM_002579.3(PALM):c.754G>A (p.Gly252Arg)	PALM (G208R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177072	NM_002579.3(PALM):c.176C>T (p.Thr59Met)	PALM (T59M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174519	NM_002579.3(PALM):c.256G>T (p.Asp86Tyr)	PALM (D86Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2173398	NM_002579.3(PALM):c.503-7G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170813	NM_002579.3(PALM):c.786G>T (p.Gly262=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169473	NM_002579.3(PALM):c.425C>G (p.Pro142Arg)	PALM (P142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166979	NM_002579.3(PALM):c.449G>A (p.Arg150Gln)	PALM (R150Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166498	NM_002579.3(PALM):c.78G>A (p.Ala26=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163267	NM_002579.3(PALM):c.345G>A (p.Pro115=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2161284	NM_002579.3(PALM):c.503-8C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign

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