OR7D4[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2375961	NM_001005191.3(OR7D4):c.925G>A (p.Asp309Asn)	OR7D4, OR7E24 (D309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777412	NM_001005191.3(OR7D4):c.924C>T (p.Ala308=)	OR7D4, OR7E24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2280958	NM_001005191.3(OR7D4):c.909A>T (p.Arg303Ser)	OR7D4, OR7E24 (R303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552381	NM_001005191.3(OR7D4):c.847C>G (p.Pro283Ala)	OR7D4, OR7E24 (P283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206656	NM_001005191.3(OR7D4):c.817A>T (p.Thr273Ser)	OR7D4, OR7E24 (T273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467844	NM_001005191.3(OR7D4):c.803C>T (p.Ser268Phe)	OR7D4, OR7E24 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303391	NM_001005191.3(OR7D4):c.785C>T (p.Ser262Phe)	OR7D4, OR7E24 (S262F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392887	NM_001005191.3(OR7D4):c.718A>C (p.Thr240Pro)	OR7D4, OR7E24 (T240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206655	NM_001005191.3(OR7D4):c.653A>C (p.Tyr218Ser)	OR7D4, OR7E24 (Y218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371044	NM_001005191.3(OR7D4):c.617T>A (p.Leu206Gln)	OR7D4, OR7E24 (L206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381850	NM_001005191.3(OR7D4):c.598T>A (p.Tyr200Asn)	OR7D4, OR7E24 (Y200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303390	NM_001005191.3(OR7D4):c.540A>T (p.Glu180Asp)	OR7D4, OR7E24 (E180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526037	NM_001005191.3(OR7D4):c.511G>A (p.Gly171Ser)	OR7D4, OR7E24 (G171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777413	NM_001005191.3(OR7D4):c.496T>C (p.Leu166=)	OR7D4, OR7E24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3303392	NM_001005191.3(OR7D4):c.487A>G (p.Met163Val)	OR7D4, OR7E24 (M163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303389	NM_001005191.3(OR7D4):c.479T>G (p.Ile160Ser)	OR7D4, OR7E24 (I160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206654	NM_001005191.3(OR7D4):c.431T>C (p.Leu144Pro)	OR7D4, OR7E24 (L144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454666	NM_001005191.3(OR7D4):c.418C>T (p.Leu140Phe)	OR7D4, OR7E24 (L140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206653	NM_001005191.3(OR7D4):c.354G>A (p.Met118Ile)	OR7D4, OR7E24 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409571	NM_001005191.3(OR7D4):c.328A>G (p.Met110Val)	OR7D4, OR7E24 (M110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270707	NM_001005191.3(OR7D4):c.247G>A (p.Val83Met)	OR7D4, OR7E24 (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239993	NM_001005191.3(OR7D4):c.224C>G (p.Ser75Cys)	OR7D4, OR7E24 (S75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206652	NM_001005191.3(OR7D4):c.223T>A (p.Ser75Thr)	OR7D4, OR7E24 (S75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206651	NM_001005191.3(OR7D4):c.188T>A (p.Leu63His)	OR7D4, OR7E24 (L63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344898	NM_001005191.3(OR7D4):c.170C>G (p.Thr57Ser)	OR7D4, OR7E24 (T57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205325	NM_001005191.3(OR7D4):c.95T>C (p.Leu32Pro)	OR7E24, OR7D4 (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206650	NM_001005191.3(OR7D4):c.14A>C (p.Asn5Thr)	OR7D4, OR7E24 (N5T)	Single nucleotide variant (missense variant)	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 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)	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 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: 37