ClinVar for Gene (Select 125963) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302598	NM_001004456.2(OR1M1):c.781T>G (p.Cys261Gly)	OR1M1 (C261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302597	NM_001004456.2(OR1M1):c.200C>T (p.Ser67Phe)	OR1M1 (S67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302596	NM_001004456.2(OR1M1):c.770G>A (p.Gly257Asp)	OR1M1 (G257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302595	NM_001004456.2(OR1M1):c.715T>G (p.Ser239Ala)	OR1M1 (S239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302594	NM_001004456.2(OR1M1):c.677T>A (p.Met226Lys)	OR1M1 (M226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302593	NM_001004456.2(OR1M1):c.327C>G (p.Ile109Met)	OR1M1 (I109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204958	NM_001004456.2(OR1M1):c.888C>G (p.Asp296Glu)	OR1M1 (D296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204957	NM_001004456.2(OR1M1):c.767T>C (p.Ile256Thr)	OR1M1 (I256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204956	NM_001004456.2(OR1M1):c.557G>A (p.Arg186Gln)	OR1M1 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204955	NM_001004456.2(OR1M1):c.526C>T (p.His176Tyr)	OR1M1 (H176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204954	NM_001004456.2(OR1M1):c.475C>G (p.His159Asp)	OR1M1 (H159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204953	NM_001004456.2(OR1M1):c.351G>A (p.Met117Ile)	OR1M1 (M117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204952	NM_001004456.2(OR1M1):c.191C>T (p.Ala64Val)	OR1M1 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204950	NM_001004456.2(OR1M1):c.172C>T (p.Pro58Ser)	OR1M1 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204949	NM_001004456.2(OR1M1):c.149G>A (p.Ser50Asn)	OR1M1 (S50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619996	NM_001004456.2(OR1M1):c.238A>C (p.Lys80Gln)	OR1M1 (K80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616824	NM_001004456.2(OR1M1):c.349A>G (p.Met117Val)	OR1M1 (M117V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611175	NM_001004456.2(OR1M1):c.641T>A (p.Ile214Asn)	OR1M1 (I214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554171	NM_001004456.2(OR1M1):c.821C>T (p.Ser274Phe)	OR1M1 (S274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489732	NM_001004456.2(OR1M1):c.569C>G (p.Thr190Arg)	OR1M1 (T190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479826	NM_001004456.2(OR1M1):c.83T>C (p.Phe28Ser)	OR1M1 (F28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474498	NM_001004456.2(OR1M1):c.397G>A (p.Ala133Thr)	OR1M1 (A133T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472219	NM_001004456.2(OR1M1):c.470T>C (p.Leu157Pro)	OR1M1 (L157P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470396	NM_001004456.2(OR1M1):c.416G>A (p.Arg139His)	OR1M1 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463070	NM_001004456.2(OR1M1):c.205G>A (p.Val69Ile)	OR1M1 (V69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395986	NM_001004456.2(OR1M1):c.304T>C (p.Tyr102His)	OR1M1 (Y102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384939	NM_001004456.2(OR1M1):c.415C>T (p.Arg139Cys)	OR1M1 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359337	NM_001004456.2(OR1M1):c.439G>A (p.Ala147Thr)	OR1M1 (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324818	NM_001004456.2(OR1M1):c.812A>G (p.Glu271Gly)	OR1M1 (E271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278390	NM_001004456.2(OR1M1):c.167A>C (p.His56Pro)	OR1M1 (H56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256415	NM_001004456.2(OR1M1):c.122G>A (p.Gly41Glu)	OR1M1 (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236902	NM_001004456.2(OR1M1):c.425G>T (p.Arg142Leu)	OR1M1 (R142L)	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 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
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
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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42