ClinVar for Gene (Select 442186) - ClinVar

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

Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205163	NM_001005216.4(OR2J3):c.892A>C (p.Lys298Gln)	OR2J3 (K298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205162	NM_001005216.4(OR2J3):c.751G>C (p.Val251Leu)	OR2J3 (V251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205161	NM_001005216.4(OR2J3):c.690G>C (p.Arg230Ser)	OR2J3 (R230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205160	NM_001005216.4(OR2J3):c.674T>C (p.Val225Ala)	OR2J3 (V225A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205159	NM_001005216.4(OR2J3):c.432C>G (p.Cys144Trp)	OR2J3 (C144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205158	NM_001005216.4(OR2J3):c.204C>A (p.Asn68Lys)	OR2J3 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205157	NM_001005216.4(OR2J3):c.120G>A (p.Met40Ile)	OR2J3 (M40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685201	GRCh37/hg19 6p22.1(chr6:29080457-29290402)x1	OR14J1, OR2J2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2561295	NM_001005216.4(OR2J3):c.607A>T (p.Met203Leu)	OR2J3 (M203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541631	NM_001005216.4(OR2J3):c.77T>C (p.Leu26Pro)	OR2J3 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528354	NM_001005216.4(OR2J3):c.625T>G (p.Phe209Val)	OR2J3 (F209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525078	NM_001005216.4(OR2J3):c.524G>A (p.Arg175His)	OR2J3 (R175H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471820	NM_001005216.4(OR2J3):c.566G>A (p.Arg189Gln)	OR2J3 (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380174	NM_001005216.4(OR2J3):c.872T>C (p.Leu291Pro)	OR2J3 (L291P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367627	NM_001005216.4(OR2J3):c.88A>C (p.Ile30Leu)	OR2J3 (I30L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365249	NM_001005216.4(OR2J3):c.856C>T (p.Pro286Ser)	OR2J3 (P286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286715	NM_001005216.4(OR2J3):c.635T>A (p.Ile212Lys)	OR2J3 (I212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273817	NM_001005216.4(OR2J3):c.730T>C (p.Cys244Arg)	OR2J3 (C244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270097	NM_001005216.4(OR2J3):c.808T>G (p.Ser270Ala)	OR2J3 (S270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808416	GRCh37/hg19 6p22.1(chr6:28965666-29155749)x1	OR2B3, OR2J2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 150190	GRCh38/hg38 6p22.1(chr6:28954920-29358310)x3	HCG15, LINC03003 +17 more	Copy number gain	See cases	GLikely benign
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149276	GRCh38/hg38 6p22.1(chr6:28954915-29358240)x1	HCG15, LINC03003 +17 more	Copy number loss	See cases	GLikely benign
Select item 40012	NM_001005216.4(OR2J3):c.677G>A (p.Arg226Gln)	OR2J3 (R226Q)	Single nucleotide variant (missense variant)	C3HEX, ability to smell	GAffects
Select item 40011	NM_001005216.4(OR2J3):c.337A>G (p.Thr113Ala)	OR2J3 (T113A)	Single nucleotide variant (missense variant)	C3HEX, ability to smell	GAffects

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 31