ClinVar for Gene (Select 8690) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287264	NM_001261833.2(JRKL):c.407G>A (p.Arg136Lys)	JRKL (R136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287263	NM_001261833.2(JRKL):c.984G>C (p.Gln328His)	JRKL (Q328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112543	NM_001261833.2(JRKL):c.913T>A (p.Ser305Thr)	JRKL (S305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112542	NM_001261833.2(JRKL):c.446A>T (p.Glu149Val)	JRKL (E149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112541	NM_001261833.2(JRKL):c.403A>G (p.Ile135Val)	JRKL (I135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112540	NM_001261833.2(JRKL):c.393G>T (p.Gln131His)	JRKL (Q131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112539	NM_001261833.2(JRKL):c.1553A>T (p.Lys518Met)	JRKL (K518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112538	NM_001261833.2(JRKL):c.1493T>A (p.Met498Lys)	JRKL (M498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112537	NM_001261833.2(JRKL):c.1220T>A (p.Val407Glu)	JRKL (V407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610223	NM_001261833.2(JRKL):c.413T>G (p.Ile138Ser)	JRKL (I138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538899	NM_001261833.2(JRKL):c.583G>A (p.Gly195Ser)	JRKL (G195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512903	NM_001261833.2(JRKL):c.1414C>G (p.Pro472Ala)	JRKL (P472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492401	NM_001261833.2(JRKL):c.218C>T (p.Pro73Leu)	JRKL (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475356	NM_001261833.2(JRKL):c.532G>A (p.Glu178Lys)	JRKL (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472157	NM_001261833.2(JRKL):c.1514T>C (p.Val505Ala)	JRKL (V505A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402798	NM_001261833.2(JRKL):c.1399G>A (p.Glu467Lys)	JRKL (E467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299216	NM_001261833.2(JRKL):c.370G>A (p.Gly124Ser)	JRKL (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256020	NM_001261833.2(JRKL):c.1283T>G (p.Leu428Arg)	JRKL (L428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980971	GRCh37/hg19 11q21-22.1(chr11:95822513-97875558)x3	CCDC82, JRKL +1 more	Copy number gain	not provided	GUncertain significance
Select item 815459	GRCh37/hg19 11q21-22.1(chr11:95878455-98553076)x1	MAML2, CCDC82 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815458	GRCh37/hg19 11q21(chr11:95841847-96810072)x3	JRKL, CCDC82 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
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 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35