ClinVar for Gene (Select 7703) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369093	NM_007144.3(PCGF2):c.914C>T (p.Thr305Ile)	CISD3, PCGF2 (T305I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3361047	NM_007144.3(PCGF2):c.527A>C (p.His176Pro)	PCGF2 (H176P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355605	NM_007144.3(PCGF2):c.907_911del (p.Pro303fs)	CISD3, PCGF2 (P303fs)	Deletion (3 prime UTR variant +1 more)	PCGF2-related disorder	GUncertain significance
Select item 3346223	NM_007144.3(PCGF2):c.340C>G (p.Arg114Gly)	PCGF2 (R114G)	Single nucleotide variant (missense variant)	PCGF2-related disorder	GUncertain significance
Select item 3344182	NM_007144.3(PCGF2):c.767G>A (p.Cys256Tyr)	CISD3, PCGF2 (C256Y)	Single nucleotide variant (3 prime UTR variant +1 more)	PCGF2-related disorder	GUncertain significance
Select item 3343242	NM_007144.3(PCGF2):c.265+2T>C	PCGF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3342211	NM_007144.3(PCGF2):c.321C>T (p.Pro107=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3305108	NM_007144.3(PCGF2):c.923G>A (p.Gly308Glu)	CISD3, PCGF2 (G308E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305107	NM_007144.3(PCGF2):c.343G>A (p.Gly115Ser)	PCGF2 (G115S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252823	NM_007144.3(PCGF2):c.904C>A (p.Pro302Thr)	CISD3, PCGF2 (P302T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3210187	NM_007144.3(PCGF2):c.890C>T (p.Pro297Leu)	CISD3, PCGF2 (P297L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210186	NM_007144.3(PCGF2):c.862A>G (p.Ser288Gly)	CISD3, PCGF2 (S288G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069065	NM_007144.3(PCGF2):c.1001C>A (p.Thr334Asn)	CISD3, PCGF2 (T334N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3064520	NM_007144.3(PCGF2):c.1026del (p.Pro342_Leu343insTer)	CISD3, PCGF2	Deletion (3 prime UTR variant +1 more)	Wolfram syndrome 2 +1 more	GUncertain significance
Select item 3048124	NM_007144.3(PCGF2):c.*9A>T	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant)	PCGF2-related disorder	GLikely benign
Select item 3020884	NM_007144.3(PCGF2):c.911C>T (p.Ser304Leu)	CISD3, PCGF2 (S304L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3016366	NM_007144.3(PCGF2):c.738G>A (p.Glu246=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3006178	NM_007144.3(PCGF2):c.265+10C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004654	NM_007144.3(PCGF2):c.391G>C (p.Val131Leu)	PCGF2 (V131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004541	NM_007144.3(PCGF2):c.990del (p.Arg331fs)	CISD3, PCGF2 (R331fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3003742	NM_007144.3(PCGF2):c.480+13G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998449	NM_007144.3(PCGF2):c.296C>G (p.Ala99Gly)	PCGF2 (A99G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2995616	NM_007144.3(PCGF2):c.781G>A (p.Asp261Asn)	CISD3, PCGF2 (D261N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2990337	NM_007144.3(PCGF2):c.372T>G (p.Ala124=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989609	NM_007144.3(PCGF2):c.658-14dup	PCGF2	Duplication (intron variant)	not provided	GBenign
Select item 2981654	NM_007144.3(PCGF2):c.316+14C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980977	NM_007144.3(PCGF2):c.112+3G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976978	NM_007144.3(PCGF2):c.408A>C (p.Glu136Asp)	PCGF2 (E136D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975553	NM_007144.3(PCGF2):c.113-22TC[6]	PCGF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2973915	NM_007144.3(PCGF2):c.481-8C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969054	NM_007144.3(PCGF2):c.209+13C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966372	NM_007144.3(PCGF2):c.658-12C>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960127	NM_007144.3(PCGF2):c.576+15C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956271	NM_007144.3(PCGF2):c.113-20T>C	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956173	NM_007144.3(PCGF2):c.519C>T (p.Thr173=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955624	NM_007144.3(PCGF2):c.588G>A (p.Leu196=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918623	NM_007144.3(PCGF2):c.657+10C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2909809	NM_007144.3(PCGF2):c.943G>A (p.Gly315Arg)	CISD3, PCGF2 (G315R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2905325	NM_007144.3(PCGF2):c.283C>T (p.Arg95Trp)	PCGF2 (R95W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901128	NM_007144.3(PCGF2):c.94G>A (p.Val32Met)	PCGF2 (V32M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895779	NM_007144.3(PCGF2):c.726C>T (p.Pro242=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2894646	NM_007144.3(PCGF2):c.344G>A (p.Gly115Asp)	PCGF2 (G115D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887860	NM_007144.3(PCGF2):c.280C>T (p.Arg94Trp)	PCGF2 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880211	NM_007144.3(PCGF2):c.307_308del (p.Leu103fs)	PCGF2 (L103fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2871219	NM_007144.3(PCGF2):c.64G>T (p.Gly22Trp)	PCGF2 (G22W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867979	NM_007144.3(PCGF2):c.316+18T>C	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860661	NM_007144.3(PCGF2):c.430C>T (p.Arg144Trp)	PCGF2 (R144W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858567	NM_007144.3(PCGF2):c.492C>T (p.Arg164=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839042	NM_007144.3(PCGF2):c.672C>G (p.Pro224=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2824356	NM_007144.3(PCGF2):c.123C>T (p.Thr41=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824212	NM_007144.3(PCGF2):c.481-3C>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2805393	NM_007144.3(PCGF2):c.104T>A (p.Leu35Gln)	PCGF2 (L35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789548	NM_007144.3(PCGF2):c.825C>T (p.Ser275=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2786859	NM_007144.3(PCGF2):c.90T>C (p.Thr30=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781710	NM_007144.3(PCGF2):c.27C>T (p.Ile9=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777286	NM_007144.3(PCGF2):c.246G>A (p.Leu82=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776713	NM_007144.3(PCGF2):c.699C>T (p.Cys233=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2744095	NM_007144.3(PCGF2):c.481-18G>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732420	NM_007144.3(PCGF2):c.415G>A (p.Glu139Lys)	PCGF2 (E139K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2723641	NM_007144.3(PCGF2):c.8G>A (p.Arg3Gln)	PCGF2 (R3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720602	NM_007144.3(PCGF2):c.653G>A (p.Arg218Gln)	PCGF2 (R218Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716063	NM_007144.3(PCGF2):c.267T>C (p.Asp89=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706976	NM_007144.3(PCGF2):c.868C>T (p.His290Tyr)	CISD3, PCGF2 (H290Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2693227	NM_007144.3(PCGF2):c.209+18C>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2672205	NM_007144.3(PCGF2):c.147dup (p.Asn50fs)	PCGF2 (N50fs)	Duplication (frameshift variant)	Turnpenny-fry syndrome	GUncertain significance
Select item 2663268	NM_007144.3(PCGF2):c.725C>T (p.Pro242Leu)	CISD3, PCGF2 (P242L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2647706	NM_007144.3(PCGF2):c.-6G>A	PCGF2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2647705	NM_007144.3(PCGF2):c.342C>T (p.Arg114=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647704	NM_007144.3(PCGF2):c.*1063G>A	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2628436	NM_007144.3(PCGF2):c.736G>A (p.Glu246Lys)	CISD3, PCGF2 (E246K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2601837	NM_007144.3(PCGF2):c.325G>A (p.Gly109Ser)	PCGF2 (G109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555458	NM_007144.3(PCGF2):c.695C>G (p.Ala232Gly)	CISD3, PCGF2 (A232G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525912	NM_007144.3(PCGF2):c.172G>A (p.Val58Met)	PCGF2 (V58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507120	NM_007144.3(PCGF2):c.844C>G (p.Pro282Ala)	CISD3, PCGF2 (P282A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2498702	NM_007144.3(PCGF2):c.130G>A (p.Val44Met)	PCGF2 (V44M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434608	NM_007144.3(PCGF2):c.629A>G (p.Asp210Gly)	PCGF2 (D210G)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome	GUncertain significance
Select item 2427889	NM_007144.3(PCGF2):c.149A>G (p.Asn50Ser)	PCGF2 (N50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425689	NC_000017.10:g.(?_36891476)_(37009963_?)dup	CISD3, CWC25 +5 more	Duplication	not provided	GLikely benign
Select item 2420764	NM_007144.3(PCGF2):c.267T>A (p.Asp89Glu)	PCGF2 (D89E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416785	NM_007144.3(PCGF2):c.265+9A>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2325754	NM_007144.3(PCGF2):c.5A>C (p.His2Pro)	PCGF2 (H2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301194	NM_007144.3(PCGF2):c.946G>A (p.Gly316Ser)	CISD3, PCGF2 (G316S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285890	NM_007144.3(PCGF2):c.991C>T (p.Arg331Cys)	CISD3, PCGF2 (R331C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200445	NM_007144.3(PCGF2):c.217A>G (p.Lys73Glu)	PCGF2 (K73E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2192218	NM_007144.3(PCGF2):c.1018G>A (p.Val340Met)	CISD3, PCGF2 (V340M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2184430	NM_007144.3(PCGF2):c.704G>A (p.Arg235Gln)	CISD3, PCGF2 (R235Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2176925	NM_007144.3(PCGF2):c.340C>T (p.Arg114Cys)	PCGF2 (R114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2176277	NM_007144.3(PCGF2):c.576+7C>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2174713	NM_007144.3(PCGF2):c.721G>A (p.Val241Met)	CISD3, PCGF2 (V241M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2173948	NM_007144.3(PCGF2):c.113-4del	PCGF2	Deletion (intron variant)	not provided	GBenign
Select item 2172893	NM_007144.3(PCGF2):c.710C>A (p.Thr237Asn)	CISD3, PCGF2 (T237N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2170194	NM_007144.3(PCGF2):c.545G>A (p.Arg182His)	PCGF2 (R182H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167288	NM_007144.3(PCGF2):c.133C>T (p.Arg45Cys)	PCGF2 (R45C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159950	NM_007144.3(PCGF2):c.1025C>G (p.Pro342Arg)	CISD3, PCGF2 (P342R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2152547	NM_007144.3(PCGF2):c.889C>A (p.Pro297Thr)	CISD3, PCGF2 (P297T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2145617	NM_007144.3(PCGF2):c.426-9C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2138411	NM_007144.3(PCGF2):c.209+10G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135878	NM_007144.3(PCGF2):c.146C>G (p.Thr49Ser)	PCGF2 (T49S)	Single nucleotide variant (missense variant)	not provided	GBenign

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