8378[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2300361	NM_175883.4(OR7D2):c.74C>T (p.Pro25Leu)	OR7D2 (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278393	NM_175883.4(OR7D2):c.167A>C (p.His56Pro)	OR7D2 (H56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352215	NM_175883.4(OR7D2):c.217T>C (p.Phe73Leu)	OR7D2 (F73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327463	NM_175883.4(OR7D2):c.285G>A (p.Met95Ile)	OR7D2 (M95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379974	NM_175883.4(OR7D2):c.344T>C (p.Leu115Pro)	OR7D2 (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467041	NM_175883.4(OR7D2):c.376G>C (p.Val126Leu)	OR7D2 (V126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540682	NM_175883.4(OR7D2):c.400A>T (p.Ile134Phe)	OR7D2 (I134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349997	NM_175883.4(OR7D2):c.425G>A (p.Gly142Asp)	OR7D2 (G142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228060	NM_175883.4(OR7D2):c.508A>G (p.Lys170Glu)	OR7D2 (K170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476677	NM_175883.4(OR7D2):c.529T>G (p.Phe177Val)	OR7D2 (F177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206646	NM_175883.4(OR7D2):c.538G>A (p.Glu180Lys)	OR7D2 (E180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588691	NM_175883.4(OR7D2):c.661A>T (p.Ile221Phe)	OR7D2 (I221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206647	NM_175883.4(OR7D2):c.694G>C (p.Gly232Arg)	OR7D2 (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218866	NM_175883.4(OR7D2):c.694G>A (p.Gly232Arg)	OR7D2 (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262947	NM_175883.4(OR7D2):c.736T>C (p.Ser246Pro)	OR7D2 (S246P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230008	NM_175883.4(OR7D2):c.746C>G (p.Ser249Cys)	OR7D2 (S249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339571	NM_175883.4(OR7D2):c.755A>G (p.Tyr252Cys)	OR7D2 (Y252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223096	NM_175883.4(OR7D2):c.775C>T (p.His259Tyr)	OR7D2 (H259Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308564	NM_175883.4(OR7D2):c.782C>T (p.Thr261Ile)	OR7D2 (T261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270166	NM_175883.4(OR7D2):c.794C>T (p.Thr265Ile)	OR7D2 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206648	NM_175883.4(OR7D2):c.805C>G (p.Gln269Glu)	OR7D2 (Q269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459447	NM_175883.4(OR7D2):c.817G>A (p.Val273Met)	OR7D2 (V273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509657	NM_175883.4(OR7D2):c.869A>G (p.Tyr290Cys)	OR7D2 (Y290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206649	NM_175883.4(OR7D2):c.928T>C (p.Ser310Pro)	OR7D2 (S310P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 980195	GRCh37/hg19 19p13.2(chr19:9245167-9465565)x3	ZNF559-ZNF177, OR7D4 +5 more	Copy number gain	not provided	GLikely benign
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 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: 34