ClinVar for Gene (Select 219986) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302880	NM_001004706.1(OR4D11):c.172C>T (p.Pro58Ser)	OR4D11 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302879	NM_001004706.1(OR4D11):c.894G>A (p.Met298Ile)	OR4D11 (M298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302878	NM_001004706.1(OR4D11):c.356C>A (p.Ala119Glu)	OR4D11 (A119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205533	NM_001004706.1(OR4D11):c.722C>A (p.Thr241Asn)	OR4D11 (T241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205532	NM_001004706.1(OR4D11):c.646G>C (p.Val216Leu)	OR4D11 (V216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205531	NM_001004706.1(OR4D11):c.549G>C (p.Gln183His)	OR4D11 (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205530	NM_001004706.1(OR4D11):c.428C>T (p.Ala143Val)	OR4D11 (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205529	NM_001004706.1(OR4D11):c.371T>G (p.Met124Arg)	OR4D11 (M124R)	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 2542166	NM_001004706.1(OR4D11):c.885G>C (p.Lys295Asn)	OR4D11 (K295N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526424	NM_001004706.1(OR4D11):c.410G>C (p.Ser137Thr)	OR4D11 (S137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521696	NM_001004706.1(OR4D11):c.183C>A (p.Phe61Leu)	OR4D11 (F61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2381014	NM_001004706.1(OR4D11):c.238A>G (p.Lys80Glu)	OR4D11 (K80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352360	NM_001004706.1(OR4D11):c.754G>A (p.Val252Met)	OR4D11 (V252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352348	NM_001004706.1(OR4D11):c.145G>A (p.Val49Met)	OR4D11 (V49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324385	NM_001004706.1(OR4D11):c.292A>G (p.Met98Val)	OR4D11 (M98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305210	NM_001004706.1(OR4D11):c.560T>C (p.Leu187Pro)	OR4D11 (L187P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287071	NM_001004706.1(OR4D11):c.632T>G (p.Phe211Cys)	OR4D11 (F211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248766	NM_001004706.1(OR4D11):c.637T>C (p.Phe213Leu)	OR4D11 (F213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235789	NM_001004706.1(OR4D11):c.356C>T (p.Ala119Val)	OR4D11 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205983	NM_001004706.1(OR4D11):c.202A>G (p.Ile68Val)	OR4D11 (I68V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205532	NM_001004706.1(OR4D11):c.550G>C (p.Val184Leu)	OR4D11 (V184L)	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 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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 91922	NM_001004706.1(OR4D11):c.575C>A (p.Thr192Asn)	OR4D11 (T192N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 31