13611[HGNC] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 3093480	NM_017703.3(FBXL12):c.940G>A (p.Val314Ile)	FBXL12 (V281I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384759	NM_017703.3(FBXL12):c.910T>G (p.Cys304Gly)	FBXL12 (C304G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562564	NM_017703.3(FBXL12):c.896C>T (p.Ala299Val)	FBXL12 (A266V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093479	NM_017703.3(FBXL12):c.889C>A (p.Gln297Lys)	FBXL12 (Q297K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608100	NM_017703.3(FBXL12):c.878G>T (p.Gly293Val)	FBXL12 (G260V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405062	NM_017703.3(FBXL12):c.841A>G (p.Met281Val)	FBXL12 (M228V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093478	NM_017703.3(FBXL12):c.686A>T (p.Asp229Val)	FBXL12 (D196V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093477	NM_017703.3(FBXL12):c.683G>A (p.Arg228Gln)	FBXL12 (R228Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493570	NM_017703.3(FBXL12):c.569C>T (p.Thr190Ile)	FBXL12 (T157I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226665	NM_017703.3(FBXL12):c.551G>A (p.Gly184Asp)	FBXL12 (G151D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351553	NM_017703.3(FBXL12):c.527G>A (p.Arg176Gln)	FBXL12 (R143Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093474	NM_017703.3(FBXL12):c.518C>T (p.Thr173Met)	FBXL12 (T173M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219478	NM_017703.3(FBXL12):c.515T>C (p.Leu172Pro)	FBXL12 (L139P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222039	NM_017703.3(FBXL12):c.499G>A (p.Glu167Lys)	FBXL12 (E114K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226659	NM_017703.3(FBXL12):c.493C>T (p.Arg165Cys)	FBXL12 (R112C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347167	NM_017703.3(FBXL12):c.469G>A (p.Val157Met)	FBXL12 (V104M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352412	NM_017703.3(FBXL12):c.436G>A (p.Asp146Asn)	FBXL12 (D113N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312604	NM_017703.3(FBXL12):c.391C>G (p.Leu131Val)	FBXL12 (L131V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457332	NM_017703.3(FBXL12):c.316C>T (p.Arg106Cys)	FBXL12 (R106C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093473	NM_017703.3(FBXL12):c.255G>C (p.Gln85His)	FBXL12 (Q32H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093472	NM_017703.3(FBXL12):c.236A>T (p.Tyr79Phe)	FBXL12 (Y79F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093471	NM_017703.3(FBXL12):c.208C>T (p.Arg70Trp)	FBXL12 (R70W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465389	NM_017703.3(FBXL12):c.164G>A (p.Arg55Gln)	FBXL12 (R22Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093476	NM_017703.3(FBXL12):c.65G>C (p.Arg22Pro)	FBXL12 (R22P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3093475	NM_017703.3(FBXL12):c.61G>C (p.Val21Leu)	FBXL12 (V21L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2569002	NM_017703.3(FBXL12):c.61G>A (p.Val21Ile)	FBXL12 (V21I)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35