7703[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2647704	NM_007144.3(PCGF2):c.*1063G>A	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1684991	NM_007144.3(PCGF2):c.1029A>C (p.Leu343Phe)	CISD3, PCGF2 (L343F)	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 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 1560211	NM_007144.3(PCGF2):c.1025C>A (p.Pro342His)	CISD3, PCGF2 (P342H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1955106	NM_007144.3(PCGF2):c.1024C>G (p.Pro342Ala)	CISD3, PCGF2 (P342A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 1633188	NM_007144.3(PCGF2):c.1017C>T (p.Pro339=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1902857	NM_007144.3(PCGF2):c.1016C>T (p.Pro339Leu)	CISD3, PCGF2 (P339L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1436087	NM_007144.3(PCGF2):c.1011C>T (p.Gly337=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2024151	NM_007144.3(PCGF2):c.1008C>G (p.Asn336Lys)	CISD3, PCGF2 (N336K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1589301	NM_007144.3(PCGF2):c.1005C>T (p.Val335=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 2034727	NM_007144.3(PCGF2):c.991C>G (p.Arg331Gly)	CISD3, PCGF2 (R331G)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2090427	NM_007144.3(PCGF2):c.971C>T (p.Pro324Leu)	CISD3, PCGF2 (P324L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1924870	NM_007144.3(PCGF2):c.949A>T (p.Ser317Cys)	CISD3, PCGF2 (S317C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 1933140	NM_007144.3(PCGF2):c.945G>T (p.Gly315=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1478692	NM_007144.3(PCGF2):c.944G>A (p.Gly315Glu)	CISD3, PCGF2 (G315E)	Single nucleotide variant (3 prime UTR variant +1 more)	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 1965524	NM_007144.3(PCGF2):c.942C>T (p.Asn314=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1598615	NM_007144.3(PCGF2):c.938C>T (p.Ala313Val)	CISD3, PCGF2 (A313V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1927468	NM_007144.3(PCGF2):c.932C>T (p.Thr311Ile)	CISD3, PCGF2 (T311I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 2082926	NM_007144.3(PCGF2):c.922G>A (p.Gly308Arg)	CISD3, PCGF2 (G308R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1516301	NM_007144.3(PCGF2):c.919A>G (p.Ser307Gly)	CISD3, PCGF2 (S307G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 1983486	NM_007144.3(PCGF2):c.912G>C (p.Ser304=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1362400	NM_007144.3(PCGF2):c.908C>T (p.Pro303Leu)	CISD3, PCGF2 (P303L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1394861	NM_007144.3(PCGF2):c.907C>G (p.Pro303Ala)	CISD3, PCGF2 (P303A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2069707	NM_007144.3(PCGF2):c.900C>G (p.Pro300=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1636145	NM_007144.3(PCGF2):c.900C>T (p.Pro300=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1660766	NM_007144.3(PCGF2):c.894C>G (p.Thr298=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 1442982	NM_007144.3(PCGF2):c.859C>G (p.Pro287Ala)	CISD3, PCGF2 (P287A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	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 1991917	NM_007144.3(PCGF2):c.841A>C (p.Thr281Pro)	CISD3, PCGF2 (T281P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1420781	NM_007144.3(PCGF2):c.839C>T (p.Ala280Val)	CISD3, PCGF2 (A280V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1974325	NM_007144.3(PCGF2):c.831C>T (p.Pro277=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1930190	NM_007144.3(PCGF2):c.792C>A (p.Pro264=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1626731	NM_007144.3(PCGF2):c.759G>A (p.Ala253=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1947431	NM_007144.3(PCGF2):c.758C>T (p.Ala253Val)	CISD3, PCGF2 (A253V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1518288	NM_007144.3(PCGF2):c.754G>A (p.Gly252Arg)	CISD3, PCGF2 (G252R)	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 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 1404261	NM_007144.3(PCGF2):c.714_731dup (p.Pro244_Ser245insAlaThrValProThrPro)	CISD3, PCGF2	Duplication (3 prime UTR variant +1 more)	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 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 2041431	NM_007144.3(PCGF2):c.724C>T (p.Pro242Ser)	CISD3, PCGF2 (P242S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 1898990	NM_007144.3(PCGF2):c.720G>A (p.Thr240=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1918848	NM_007144.3(PCGF2):c.713T>A (p.Leu238Gln)	CISD3, PCGF2 (L238Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1376316	NM_007144.3(PCGF2):c.706C>T (p.Leu236Phe)	CISD3, PCGF2 (L236F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 2080640	NM_007144.3(PCGF2):c.703C>T (p.Arg235Trp)	CISD3, PCGF2 (R235W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1567003	NM_007144.3(PCGF2):c.692C>T (p.Pro231Leu)	CISD3, PCGF2 (P231L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2127511	NM_007144.3(PCGF2):c.673C>A (p.Leu225Ile)	CISD3, PCGF2 (L225I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 2054269	NM_007144.3(PCGF2):c.669C>G (p.Leu223=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1918480	NM_007144.3(PCGF2):c.661G>A (p.Gly221Arg)	CISD3, PCGF2 (G221R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1473244	NM_007144.3(PCGF2):c.660C>T (p.Asn220=)	CISD3, PCGF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1443606	NM_007144.3(PCGF2):c.658A>T (p.Asn220Tyr)	CISD3, PCGF2 (N220Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	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 2989609	NM_007144.3(PCGF2):c.658-14dup	PCGF2	Duplication (intron variant)	not provided	GBenign
Select item 1608582	NM_007144.3(PCGF2):c.657+20G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902007	NM_007144.3(PCGF2):c.657+16G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620771	NM_007144.3(PCGF2):c.657+11G>A	PCGF2	Single nucleotide variant (intron 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 2720602	NM_007144.3(PCGF2):c.653G>A (p.Arg218Gln)	PCGF2 (R218Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949795	NM_007144.3(PCGF2):c.652C>T (p.Arg218Trp)	PCGF2 (R218W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439825	NM_007144.3(PCGF2):c.634G>A (p.Ala212Thr)	PCGF2 (A212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984837	NM_007144.3(PCGF2):c.633C>T (p.Ile211=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896341	NM_007144.3(PCGF2):c.630C>T (p.Asp210=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1481995	NM_007144.3(PCGF2):c.598G>A (p.Glu200Lys)	PCGF2 (E200K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1917960	NM_007144.3(PCGF2):c.597C>T (p.Asp199=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679580	NM_007144.3(PCGF2):c.592G>A (p.Glu198Lys)	PCGF2 (E198K)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome +1 more	GUncertain significance
Select item 2062683	NM_007144.3(PCGF2):c.591C>T (p.Tyr197=)	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 1535773	NM_007144.3(PCGF2):c.582G>A (p.Glu194=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972647	NM_007144.3(PCGF2):c.579G>A (p.Val193=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1530507	NM_007144.3(PCGF2):c.577-6C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915013	NM_007144.3(PCGF2):c.577-15G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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