ClinVar for Gene (Select 219959) - ClinVar

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

Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302613	NM_001004458.4(OR1S1):c.440T>C (p.Ile147Thr)	OR1S1 (I147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302612	NM_001004458.4(OR1S1):c.358T>C (p.Tyr120His)	OR1S1 (Y120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302611	NM_001004458.4(OR1S1):c.176T>C (p.Met59Thr)	OR1S1 (M59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204975	NM_001004458.4(OR1S1):c.659G>C (p.Cys220Ser)	OR1S1 (C220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204974	NM_001004458.4(OR1S1):c.26T>G (p.Ile9Ser)	OR1S1 (I9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204972	NM_001004458.4(OR1S1):c.332A>G (p.Asp111Gly)	OR1S1 (D111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204971	NM_001004458.4(OR1S1):c.326T>C (p.Val109Ala)	OR1S1 (V109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204970	NM_001004458.4(OR1S1):c.304T>A (p.Tyr102Asn)	OR1S1 (Y102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204969	NM_001004458.4(OR1S1):c.212T>C (p.Ile71Thr)	OR1S1 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204968	NM_001004458.4(OR1S1):c.177G>C (p.Met59Ile)	OR1S1 (M59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2616782	NM_001004458.4(OR1S1):c.799C>T (p.Pro267Ser)	OR1S1 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607184	NM_001004458.4(OR1S1):c.266G>T (p.Ser89Ile)	OR1S1 (S89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599331	NM_001004458.4(OR1S1):c.158C>A (p.Thr53Lys)	OR1S1 (T53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568466	NM_001004458.4(OR1S1):c.887A>C (p.Asp296Ala)	OR1S1 (D296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487576	NM_001004458.4(OR1S1):c.125A>T (p.Asn42Ile)	OR1S1 (N42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482880	NM_001004458.4(OR1S1):c.145A>G (p.Ile49Val)	OR1S1 (I49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470306	NM_001004458.4(OR1S1):c.158C>T (p.Thr53Met)	OR1S1 (T53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466888	NM_001004458.4(OR1S1):c.335A>G (p.Asn112Ser)	OR1S1 (N112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466678	NM_001004458.4(OR1S1):c.653A>G (p.Tyr218Cys)	OR1S1 (Y218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411936	NM_001004458.4(OR1S1):c.469C>G (p.Leu157Val)	OR1S1 (L157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371128	NM_001004458.4(OR1S1):c.860C>T (p.Pro287Leu)	OR1S1 (P287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367233	NM_001004458.4(OR1S1):c.499C>T (p.Leu167Phe)	OR1S1 (L167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340384	NM_001004458.4(OR1S1):c.101T>C (p.Met34Thr)	OR1S1 (M34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328792	NM_001004458.4(OR1S1):c.116T>C (p.Val39Ala)	OR1S1 (V39A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291298	NM_001004458.4(OR1S1):c.97G>T (p.Gly33Cys)	OR1S1 (G33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285191	NM_001004458.4(OR1S1):c.167A>C (p.His56Pro)	OR1S1 (H69P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273972	NM_001004458.4(OR1S1):c.20C>T (p.Thr7Ile)	OR1S1 (T20I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211251	NM_001004458.4(OR1S1):c.754T>A (p.Tyr252Asn)	OR1S1 (Y252N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207900	NM_001004458.4(OR1S1):c.793A>G (p.Thr265Ala)	OR1S1 (T265A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207337	NM_001004458.4(OR1S1):c.28A>C (p.Thr10Pro)	OR1S1 (T10P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 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

Links from Gene

Items: 39