OR7G1[gene] - ClinVar

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Items: 33

	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 3206669	NM_001005192.2(OR7G1):c.892A>C (p.Lys298Gln)	OR7G1 (K298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455158	NM_001005192.2(OR7G1):c.845C>G (p.Pro282Arg)	OR7G1 (P282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267776	NM_001005192.2(OR7G1):c.838G>A (p.Val280Met)	OR7G1 (V280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303401	NM_001005192.2(OR7G1):c.829A>G (p.Met277Val)	OR7G1 (M277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206668	NM_001005192.2(OR7G1):c.829A>T (p.Met277Leu)	OR7G1 (M277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206667	NM_001005192.2(OR7G1):c.809T>C (p.Ile270Thr)	OR7G1 (I270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595775	NM_001005192.2(OR7G1):c.806G>A (p.Arg269Gln)	OR7G1 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544218	NM_001005192.2(OR7G1):c.790G>C (p.Val264Leu)	OR7G1 (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206666	NM_001005192.2(OR7G1):c.766T>C (p.Phe256Leu)	OR7G1 (F256L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545178	NM_001005192.2(OR7G1):c.763G>C (p.Ala255Pro)	OR7G1 (A255P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303400	NM_001005192.2(OR7G1):c.732C>G (p.His244Gln)	OR7G1 (H244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206665	NM_001005192.2(OR7G1):c.689C>T (p.Ser230Leu)	OR7G1 (S230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303398	NM_001005192.2(OR7G1):c.673G>T (p.Val225Phe)	OR7G1 (V225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303399	NM_001005192.2(OR7G1):c.644T>A (p.Ile215Asn)	OR7G1 (I215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266016	NM_001005192.2(OR7G1):c.626T>A (p.Ile209Asn)	OR7G1 (I209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547766	NM_001005192.2(OR7G1):c.457A>C (p.Thr153Pro)	OR7G1 (T153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206664	NM_001005192.2(OR7G1):c.413T>A (p.Val138Asp)	OR7G1 (V138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332310	NM_001005192.2(OR7G1):c.376A>G (p.Ile126Val)	OR7G1 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518025	NM_001005192.2(OR7G1):c.193A>G (p.Asn65Asp)	OR7G1 (N65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240780	NM_001005192.2(OR7G1):c.175A>T (p.Met59Leu)	OR7G1 (M59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242611	NM_001005192.2(OR7G1):c.158C>T (p.Ser53Phe)	OR7G1 (S53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598120	NM_001005192.2(OR7G1):c.104A>G (p.Tyr35Cys)	OR7G1 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457799	NM_001005192.2(OR7G1):c.87C>A (p.Ser29Arg)	OR7G1 (S29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 33