ClinVar for Gene (Select 27000) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084544	NM_014377.3(DNAJC2):c.875A>C (p.Glu292Ala)	DNAJC2, PMPCB (E146A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084543	NM_014377.3(DNAJC2):c.1795C>A (p.Leu599Ile)	DNAJC2, PMPCB (L525I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084542	NM_014377.3(DNAJC2):c.1771G>A (p.Asp591Asn)	DNAJC2, PMPCB (D538N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084541	NM_014377.3(DNAJC2):c.1649A>G (p.Asp550Gly)	DNAJC2, PMPCB (D550G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084539	NM_014377.3(DNAJC2):c.1634A>C (p.Glu545Ala)	DNAJC2, PMPCB (E471A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084538	NM_014377.3(DNAJC2):c.1630T>G (p.Phe544Val)	DNAJC2, PMPCB (F398V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084537	NM_014377.3(DNAJC2):c.1628G>T (p.Arg543Leu)	DNAJC2, PMPCB (R469L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084536	NM_014377.3(DNAJC2):c.1625A>G (p.Glu542Gly)	DNAJC2, PMPCB (E542G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084535	NM_014377.3(DNAJC2):c.1501G>A (p.Gly501Ser)	DNAJC2, PMPCB (G501S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084533	NM_014377.3(DNAJC2):c.1307C>G (p.Ala436Gly)	DNAJC2, PMPCB (A383G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084532	NM_014377.3(DNAJC2):c.1182C>G (p.Cys394Trp)	DNAJC2, PMPCB (C248W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084531	NM_014377.3(DNAJC2):c.1045A>G (p.Ile349Val)	DNAJC2, PMPCB (I203V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2673124	NM_014377.3(DNAJC2):c.1320A>G (p.Thr440=)	DNAJC2, PMPCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602606	NM_014377.3(DNAJC2):c.630T>A (p.Asp210Glu)	DNAJC2, PMPCB (D210E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591631	NM_014377.3(DNAJC2):c.1157G>A (p.Arg386Gln)	DNAJC2, PMPCB (R312Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547009	NM_014377.3(DNAJC2):c.930A>T (p.Glu310Asp)	DNAJC2, PMPCB (E236D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535811	NM_014377.3(DNAJC2):c.365A>G (p.Lys122Arg)	DNAJC2, PMPCB (K48R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523204	NM_014377.3(DNAJC2):c.313A>G (p.Arg105Gly)	DNAJC2, PMPCB (R105G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515965	NM_014377.3(DNAJC2):c.1616C>T (p.Thr539Met)	DNAJC2, PMPCB (T539M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492187	NM_014377.3(DNAJC2):c.142G>A (p.Ala48Thr)	DNAJC2, PMPCB (A48T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472356	NM_014377.3(DNAJC2):c.1294C>T (p.Arg432Cys)	DNAJC2, PMPCB (R432C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467010	NM_014377.3(DNAJC2):c.1637G>T (p.Gly546Val)	DNAJC2, PMPCB (G400V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2374140	NM_014377.3(DNAJC2):c.434A>T (p.Tyr145Phe)	DNAJC2, PMPCB (Y145F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299740	NM_014377.3(DNAJC2):c.1653C>G (p.Phe551Leu)	DNAJC2, PMPCB (F498L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295261	NM_014377.3(DNAJC2):c.826T>C (p.Cys276Arg)	DNAJC2, PMPCB (C202R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282072	NM_014377.3(DNAJC2):c.1334G>A (p.Gly445Asp)	DNAJC2, PMPCB (G299D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277908	NM_014377.3(DNAJC2):c.1469C>G (p.Ser490Cys)	DNAJC2, PMPCB (S490C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268627	NM_014377.3(DNAJC2):c.1846G>A (p.Ala616Thr)	DNAJC2, PMPCB (A542T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256256	NM_014377.3(DNAJC2):c.922G>A (p.Ala308Thr)	DNAJC2, PMPCB (A162T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228483	NM_014377.3(DNAJC2):c.1607A>G (p.Asp536Gly)	DNAJC2, PMPCB (D536G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228449	NM_014377.3(DNAJC2):c.395A>G (p.Glu132Gly)	DNAJC2, PMPCB (E132G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207709	NM_014377.3(DNAJC2):c.1628G>A (p.Arg543Gln)	DNAJC2, PMPCB (R397Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1459935	NC_000007.13:g.(?_102937907)_(103629803_?)del	DNAJC2, PMPCB +3 more	Deletion	Norman-Roberts syndrome +1 more	GPathogenic
Select item 1411331	NC_000007.13:g.(?_102937907)_(103151472_?)dup	DNAJC2, PMPCB +3 more	Duplication	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 815012	GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3	ARMC10, NFE4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563407	GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1	SRPK2, PUS7 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144348	GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1	DNAJC2, LOC121175357 +11 more	Copy number loss	See cases	GUncertain significance
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57