13192[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	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
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 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	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 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 2673124	NM_014377.3(DNAJC2):c.1320A>G (p.Thr440=)	PMPCB, DNAJC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 3273115	NM_014377.3(DNAJC2):c.884A>G (p.Lys295Arg)	DNAJC2, PMPCB (K221R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 144348	GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1	DNAJC2, LOC121175357 +11 more	Copy number loss	See cases	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 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 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 3273116	NM_014377.3(DNAJC2):c.128A>G (p.Asn43Ser)	DNAJC2, PMPCB (N43S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	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	SLC26A5, DNAJC2 +3 more	Duplication	Norman-Roberts syndrome +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60