219957[Gene ID] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 2525904	NM_001005283.3(OR9Q2):c.22G>T (p.Val8Leu)	OR9Q2 (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323382	NM_001005283.3(OR9Q2):c.65A>T (p.Gln22Leu)	OR9Q2 (Q22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390492	NM_001005283.3(OR9Q2):c.67T>C (p.Trp23Arg)	OR9Q2 (W23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212218	NM_001005283.3(OR9Q2):c.96G>T (p.Leu32Phe)	OR9Q2 (L32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519058	NM_001005283.3(OR9Q2):c.103T>C (p.Tyr35His)	OR9Q2 (Y35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531911	NM_001005283.3(OR9Q2):c.121G>A (p.Gly41Arg)	OR9Q2 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602289	NM_001005283.3(OR9Q2):c.155A>G (p.Asp52Gly)	OR9Q2 (D52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540319	NM_001005283.3(OR9Q2):c.160C>T (p.Arg54Trp)	OR9Q2 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240836	NM_001005283.3(OR9Q2):c.166C>T (p.His56Tyr)	OR9Q2 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206916	NM_001005283.3(OR9Q2):c.193C>T (p.His65Tyr)	OR9Q2 (H65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229105	NM_001005283.3(OR9Q2):c.221C>T (p.Ser74Leu)	OR9Q2 (S74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488156	NM_001005283.3(OR9Q2):c.230T>C (p.Ile77Thr)	OR9Q2 (I77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206917	NM_001005283.3(OR9Q2):c.286C>T (p.Arg96Cys)	OR9Q2 (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308918	NM_001005283.3(OR9Q2):c.301T>C (p.Phe101Leu)	OR9Q2 (F101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489153	NM_001005283.3(OR9Q2):c.472G>C (p.Val158Leu)	OR9Q2 (V158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495518	NM_001005283.3(OR9Q2):c.519G>T (p.Glu173Asp)	OR9Q2 (E173D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206918	NM_001005283.3(OR9Q2):c.575G>T (p.Ser192Ile)	OR9Q2 (S192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464457	NM_001005283.3(OR9Q2):c.581C>T (p.Thr194Ile)	OR9Q2 (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458351	NM_001005283.3(OR9Q2):c.622C>T (p.Pro208Ser)	OR9Q2 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301982	NM_001005283.3(OR9Q2):c.642C>G (p.Ile214Met)	OR9Q2 (I214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233244	NM_001005283.3(OR9Q2):c.647T>C (p.Val216Ala)	OR9Q2 (V216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262637	NM_001005283.3(OR9Q2):c.673A>C (p.Ile225Leu)	OR9Q2 (I225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206919	NM_001005283.3(OR9Q2):c.724G>A (p.Ala242Thr)	OR9Q2 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303485	NM_001005283.3(OR9Q2):c.734T>C (p.Leu245Pro)	OR9Q2 (L245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225044	NM_001005283.3(OR9Q2):c.766A>G (p.Ile256Val)	OR9Q2 (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303484	NM_001005283.3(OR9Q2):c.789C>G (p.Asn263Lys)	OR9Q2 (N263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530686	NM_001005283.3(OR9Q2):c.838G>A (p.Val280Met)	OR9Q2 (V280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272826	NM_001005283.3(OR9Q2):c.928C>A (p.Pro310Thr)	OR9Q2 (P310T)	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 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

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Items: 37