OR7G3[gene] - ClinVar

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Items: 26

	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 3206682	NM_001001958.1(OR7G3):c.928T>C (p.Ser310Pro)	OR7G3 (S310P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206681	NM_001001958.1(OR7G3):c.831G>A (p.Met277Ile)	OR7G3 (M277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225733	NM_001001958.1(OR7G3):c.820G>C (p.Ala274Pro)	OR7G3 (A274P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454698	NM_001001958.1(OR7G3):c.812G>A (p.Gly271Asp)	OR7G3 (G271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598429	NM_001001958.1(OR7G3):c.694G>C (p.Gly232Arg)	OR7G3 (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649275	NM_001001958.1(OR7G3):c.660A>G (p.Arg220=)	OR7G3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546439	NM_001001958.1(OR7G3):c.573T>A (p.Asp191Glu)	OR7G3 (D191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206679	NM_001001958.1(OR7G3):c.542T>C (p.Leu181Pro)	OR7G3 (L181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303405	NM_001001958.1(OR7G3):c.539A>T (p.Glu180Val)	OR7G3 (E180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206678	NM_001001958.1(OR7G3):c.451G>A (p.Val151Ile)	OR7G3 (V151I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492698	NM_001001958.1(OR7G3):c.434T>A (p.Leu145His)	OR7G3 (L145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337394	NM_001001958.1(OR7G3):c.384C>G (p.His128Gln)	OR7G3 (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206677	NM_001001958.1(OR7G3):c.376A>G (p.Ile126Val)	OR7G3 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458914	NM_001001958.1(OR7G3):c.295A>T (p.Thr99Ser)	OR7G3 (T99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324750	NM_001001958.1(OR7G3):c.235C>T (p.Pro79Ser)	OR7G3 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206676	NM_001001958.1(OR7G3):c.110C>T (p.Ala37Val)	OR7G3 (A37V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 980198	GRCh37/hg19 19p13.2(chr19:8680063-9273676)x3	ACTL9, MBD3L1 +8 more	Copy number gain	not provided	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 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: 26