31303[HGNC] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2252879	NM_001005490.2(OR6C74):c.8A>G (p.Asn3Ser)	OR6C74 (N3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262141	NM_001005490.2(OR6C74):c.136C>G (p.Leu46Val)	OR6C74 (L46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460691	NM_001005490.2(OR6C74):c.279C>A (p.Asn93Lys)	OR6C74 (N93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303320	NM_001005490.2(OR6C74):c.328T>G (p.Phe110Val)	OR6C74 (F110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206495	NM_001005490.2(OR6C74):c.386A>G (p.His129Arg)	OR6C74 (H129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206496	NM_001005490.2(OR6C74):c.458T>A (p.Ile153Lys)	OR6C74 (I153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303324	NM_001005490.2(OR6C74):c.472C>T (p.Leu158Phe)	OR6C74 (L158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206497	NM_001005490.2(OR6C74):c.533A>C (p.Asp178Ala)	OR6C74 (D178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615320	NM_001005490.2(OR6C74):c.547C>A (p.Leu183Met)	OR6C74 (L183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303325	NM_001005490.2(OR6C74):c.554T>A (p.Leu185His)	OR6C74 (L185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290578	NM_001005490.2(OR6C74):c.710C>T (p.Ser237Phe)	OR6C74 (S237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303321	NM_001005490.2(OR6C74):c.716G>A (p.Cys239Tyr)	OR6C74 (C239Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303323	NM_001005490.2(OR6C74):c.722C>T (p.Ser241Phe)	OR6C74 (S241F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234897	NM_001005490.2(OR6C74):c.733G>A (p.Val245Ile)	OR6C74 (V245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303322	NM_001005490.2(OR6C74):c.800C>T (p.Ser267Leu)	OR6C74 (S267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595575	NM_001005490.2(OR6C74):c.842C>T (p.Pro281Leu)	OR6C74 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360821	NM_001005490.2(OR6C74):c.866C>T (p.Thr289Ile)	OR6C74 (T289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558687	NM_001005490.2(OR6C74):c.893T>C (p.Val298Ala)	OR6C74 (V298A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24