OR6C68[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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 2215224	NM_001005519.2(OR6C68):c.34C>T (p.Leu12Phe)	OR6C68 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556179	NM_001005519.2(OR6C68):c.81G>T (p.Met27Ile)	OR6C68 (M27I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206485	NM_001005519.2(OR6C68):c.128T>C (p.Ile43Thr)	OR6C68 (I43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206486	NM_001005519.2(OR6C68):c.209C>T (p.Ser70Leu)	OR6C68 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458990	NM_001005519.2(OR6C68):c.226G>T (p.Val76Phe)	OR6C68 (V76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206487	NM_001005519.2(OR6C68):c.234A>C (p.Arg78Ser)	OR6C68 (R78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547898	NM_001005519.2(OR6C68):c.248T>C (p.Ile83Thr)	OR6C68 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387936	NM_001005519.2(OR6C68):c.346A>G (p.Met116Val)	OR6C68 (M116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303317	NM_001005519.2(OR6C68):c.397A>G (p.Ile133Val)	OR6C68 (I133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206488	NM_001005519.2(OR6C68):c.448G>T (p.Ala150Ser)	OR6C68 (A150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401421	NM_001005519.2(OR6C68):c.487C>G (p.His163Asp)	OR6C68 (H163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345595	NM_001005519.2(OR6C68):c.491T>C (p.Leu164Pro)	OR6C68 (L164P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376808	NM_001005519.2(OR6C68):c.516C>G (p.Ile172Met)	OR6C68 (I172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475977	NM_001005519.2(OR6C68):c.535G>C (p.Ala179Pro)	OR6C68 (A179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241357	NM_001005519.2(OR6C68):c.604G>T (p.Val202Leu)	OR6C68 (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405406	NM_001005519.2(OR6C68):c.632G>A (p.Cys211Tyr)	OR6C68 (C211Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206489	NM_001005519.2(OR6C68):c.836T>C (p.Ile279Thr)	OR6C68 (I279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529482	NM_001005519.2(OR6C68):c.872G>T (p.Arg291Met)	OR6C68 (R291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24