23234[Gene ID] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3233977	NM_173348.2(FAM149B1):c.1128-2A>G	DNAJC9, FAM149B1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2505233	NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)	DNAJC9, FAM149B1 (R395*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GLikely pathogenic
Select item 2491551	NM_173348.2(FAM149B1):c.1184G>A (p.Arg395Gln)	DNAJC9, FAM149B1 (R395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091893	NM_173348.2(FAM149B1):c.1188T>G (p.Asn396Lys)	DNAJC9, FAM149B1 (N396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689040	NM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly)	DNAJC9, FAM149B1 (W397G)	Single nucleotide variant (missense variant)	Joubert syndrome 36	GUncertain significance
Select item 3237481	NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)	DNAJC9, FAM149B1 (R400*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GPathogenic
Select item 3091895	NM_173348.2(FAM149B1):c.1199G>A (p.Arg400Gln)	DNAJC9, FAM149B1 (R400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286578	NM_173348.2(FAM149B1):c.1212T>G (p.Phe404Leu)	DNAJC9, FAM149B1 (F404L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371495	NM_173348.2(FAM149B1):c.1237G>A (p.Val413Met)	DNAJC9, FAM149B1 (V413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388178	NM_173348.2(FAM149B1):c.1255C>T (p.Arg419Cys)	DNAJC9, FAM149B1 (R419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091896	NM_173348.2(FAM149B1):c.1273A>G (p.Thr425Ala)	DNAJC9, FAM149B1 (T425A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091897	NM_173348.2(FAM149B1):c.1343G>A (p.Gly448Glu)	DNAJC9, FAM149B1 (G448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374141	NM_173348.2(FAM149B1):c.1345G>C (p.Ala449Pro)	DNAJC9, FAM149B1 (A449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325965	NM_173348.2(FAM149B1):c.1345G>A (p.Ala449Thr)	DNAJC9, FAM149B1 (A449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360865	NM_173348.2(FAM149B1):c.1349G>A (p.Arg450Gln)	DNAJC9, FAM149B1 (R450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047727	NM_173348.2(FAM149B1):c.1389G>A (p.Pro463=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	FAM149B1-related disorder	GLikely benign
Select item 2455465	NM_173348.2(FAM149B1):c.1391C>A (p.Thr464Lys)	DNAJC9, FAM149B1 (T464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065140	NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)	DNAJC9, FAM149B1 (R468*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GLikely pathogenic
Select item 3039524	NM_173348.2(FAM149B1):c.1417C>T (p.Pro473Ser)	DNAJC9, FAM149B1 (P473S)	Single nucleotide variant (missense variant)	FAM149B1-related disorder	GLikely benign
Select item 2640587	NM_173348.2(FAM149B1):c.1482C>T (p.Pro494=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672402	NM_173348.2(FAM149B1):c.1485T>C (p.His495=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3277191	NM_173348.2(FAM149B1):c.1489G>A (p.Asp497Asn)	DNAJC9, FAM149B1 (D497N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360673	NM_173348.2(FAM149B1):c.1516G>A (p.Val506Met)	DNAJC9, FAM149B1 (V506M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711259	NM_173348.2(FAM149B1):c.1551G>A (p.Arg517=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689041	NM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs)	DNAJC9, FAM149B1 (D522fs)	Deletion (frameshift variant)	Joubert syndrome 36	GUncertain significance
Select item 2238986	NM_173348.2(FAM149B1):c.1589C>G (p.Thr530Ser)	DNAJC9, FAM149B1 (T530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367861	NM_173348.2(FAM149B1):c.1618C>T (p.Arg540Cys)	DNAJC9, FAM149B1 (R540C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025492	NM_173348.2(FAM149B1):c.1626A>G (p.Ser542=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530170	NM_173348.2(FAM149B1):c.1631C>T (p.Ala544Val)	DNAJC9, FAM149B1 (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339601	NM_173348.2(FAM149B1):c.1643C>T (p.Pro548Leu)	DNAJC9, FAM149B1 (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484414	NM_173348.2(FAM149B1):c.1648C>A (p.Gln550Lys)	DNAJC9, FAM149B1 (Q550K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361458	NM_015190.5(DNAJC9):c.692T>C (p.Met231Thr)	DNAJC9, FAM149B1 (M231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244756	NM_015190.5(DNAJC9):c.633A>C (p.Glu211Asp)	DNAJC9, FAM149B1 (E211D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609661	NM_015190.5(DNAJC9):c.394C>G (p.Gln132Glu)	DNAJC9 (Q132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304998	NM_015190.5(DNAJC9):c.389T>C (p.Ile130Thr)	DNAJC9 (I130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318040	NM_015190.5(DNAJC9):c.362A>G (p.Lys121Arg)	DNAJC9 (K121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322848	NM_015190.5(DNAJC9):c.221A>T (p.Gln74Leu)	DNAJC9, LOC126860955 (Q74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261977	NM_015190.5(DNAJC9):c.203T>C (p.Val68Ala)	DNAJC9, LOC126860955 (V68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273139	NM_015190.5(DNAJC9):c.71G>T (p.Arg24Leu)	DNAJC9, LOC126860955 (R24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527591	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588)	DNAJC9, ECD +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 56