51343[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	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 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	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 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
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 2276508	NM_016263.4(FZR1):c.67C>T (p.Arg23Cys)	FZR1 (R23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3097713	NM_016263.4(FZR1):c.160G>A (p.Gly54Arg)	FZR1 (G54R)	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 2296412	NM_016263.4(FZR1):c.238G>A (p.Ala80Thr)	FZR1 (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2623424	NM_016263.4(FZR1):c.338A>T (p.Glu113Val)	FZR1 (E113V)	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 2596299	NM_016263.4(FZR1):c.386C>T (p.Thr129Met)	FZR1 (T129M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3025329	NM_016263.4(FZR1):c.702C>T (p.Ser234=)	FZR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 1330275	NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	FZR1 (G287S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 109 +5 more	GConflicting classifications of pathogenicity
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 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 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +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 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
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	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	SMIM24, SPPL2B +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54