ClinVar for Gene (Select 51343) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349234	NM_016263.4(FZR1):c.659C>T (p.Thr220Met)	FZR1 (T131M +1 more)	Single nucleotide variant (missense variant)	FZR1-related condition	GUncertain significance
Select item 3348105	NM_016263.4(FZR1):c.347G>T (p.Arg116Met)	FZR1 (R116M)	Single nucleotide variant (missense variant)	FZR1-related condition	GUncertain significance
Select item 3344872	NM_016263.4(FZR1):c.1440+14G>T	FZR1	Single nucleotide variant (intron variant)	FZR1-related condition	GUncertain significance
Select item 3344867	NM_016263.4(FZR1):c.915G>A (p.Ser305=)	FZR1	Single nucleotide variant (synonymous variant)	FZR1-related condition	GBenign
Select item 3280313	NM_016263.4(FZR1):c.1433C>T (p.Ser478Leu)	FZR1 (S478L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280311	NM_016263.4(FZR1):c.1084G>A (p.Ala362Thr)	FZR1 (A273T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3097716	NM_016263.4(FZR1):c.946G>C (p.Val316Leu)	FZR1 (V227L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3097715	NM_016263.4(FZR1):c.797T>C (p.Met266Thr)	FZR1 (M266T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097713	NM_016263.4(FZR1):c.160G>A (p.Gly54Arg)	FZR1 (G54R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097712	NM_016263.4(FZR1):c.10G>T (p.Asp4Tyr)	FZR1 (D4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063955	NM_016263.4(FZR1):c.826G>A (p.Ala276Thr)	FZR1 (A187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027057	NM_016263.4(FZR1):c.255C>T (p.Gly85=)	FZR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3025329	NM_016263.4(FZR1):c.702C>T (p.Ser234=)	FZR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2770322	NM_016263.4(FZR1):c.895C>T (p.Arg299Cys)	FZR1 (R210C +1 more)	Single nucleotide variant (missense variant)	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 2648988	NM_016263.4(FZR1):c.429C>T (p.Asn143=)	FZR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623424	NM_016263.4(FZR1):c.338A>T (p.Glu113Val)	FZR1 (E113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596299	NM_016263.4(FZR1):c.386C>T (p.Thr129Met)	FZR1 (T129M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568805	NM_016263.4(FZR1):c.69C>T (p.Arg23=)	FZR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2474538	NM_016263.4(FZR1):c.938G>A (p.Arg313Gln)	FZR1 (R224Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2353389	NM_016263.4(FZR1):c.874A>G (p.Met292Val)	FZR1 (M292V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353164	NM_016263.4(FZR1):c.344G>A (p.Arg115His)	FZR1 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339549	NM_016263.4(FZR1):c.476A>T (p.Lys159Met)	FZR1 (K159M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331870	NM_016263.4(FZR1):c.1132G>A (p.Ala378Thr)	FZR1 (A289T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315940	NM_016263.4(FZR1):c.1081A>G (p.Ile361Val)	FZR1 (I272V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296412	NM_016263.4(FZR1):c.238G>A (p.Ala80Thr)	FZR1 (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276508	NM_016263.4(FZR1):c.67C>T (p.Arg23Cys)	FZR1 (R23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2273613	NM_016263.4(FZR1):c.1445C>G (p.Ser482Cys)	FZR1 (S485C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238039	NM_016263.4(FZR1):c.488C>G (p.Ser163Cys)	FZR1 (S163C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225212	NM_016263.4(FZR1):c.923G>A (p.Arg308Gln)	FZR1 (R308Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220228	NM_016263.4(FZR1):c.206A>C (p.Lys69Thr)	FZR1 (K69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802186	NM_016263.4(FZR1):c.999C>A (p.Asn333Lys)	FZR1 (N333K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 109	GPathogenic
Select item 1802185	NM_016263.4(FZR1):c.999C>G (p.Asn333Lys)	FZR1 (N333K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 109	GPathogenic
Select item 1802184	NM_016263.4(FZR1):c.559G>A (p.Asp187Asn)	FZR1 (D187N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 109	GPathogenic
Select item 1802183	NM_016263.4(FZR1):c.560A>G (p.Asp187Gly)	FZR1 (D187G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 109	GPathogenic
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1330275	NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	FZR1 (G287S +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394236	GRCh37/hg19 19p13.3(chr19:3536419-3551065)x3	FZR1, MFSD12 +1 more	Copy number gain	See cases	GLikely benign
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 61