13102[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 152173	GRCh38/hg38 10p11.1(chr10:38052840-38766476)x4	LINC00999, LOC130003698 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2477735	NM_001324250.3(ZNF37A):c.195G>T (p.Glu65Asp)	ZNF37A (E65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493755	NM_001324250.3(ZNF37A):c.253A>G (p.Ser85Gly)	ZNF37A (S85G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195430	NM_001324250.3(ZNF37A):c.281A>G (p.Asn94Ser)	ZNF37A (N94S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318041	NM_001324250.3(ZNF37A):c.283G>A (p.Glu95Lys)	ZNF37A (E95K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195431	NM_001324250.3(ZNF37A):c.285G>T (p.Glu95Asp)	ZNF37A (E95D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619970	NM_001324250.3(ZNF37A):c.329T>A (p.Ile110Lys)	ZNF37A (I110K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195432	NM_001324250.3(ZNF37A):c.349C>T (p.Pro117Ser)	ZNF37A (P117S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517697	NM_001324250.3(ZNF37A):c.379T>G (p.Phe127Val)	ZNF37A (F127V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195433	NM_001324250.3(ZNF37A):c.422A>G (p.Asn141Ser)	ZNF37A (N141S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552554	NM_001324250.3(ZNF37A):c.431A>G (p.Gln144Arg)	ZNF37A (Q144R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195434	NM_001324250.3(ZNF37A):c.490C>T (p.His164Tyr)	ZNF37A (H164Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270040	NM_001324250.3(ZNF37A):c.611A>T (p.Glu204Val)	ZNF37A (E204V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408454	NM_001324250.3(ZNF37A):c.734A>G (p.Tyr245Cys)	ZNF37A (Y245C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545696	NM_001324250.3(ZNF37A):c.746G>A (p.Gly249Glu)	ZNF37A (G249E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494694	NM_001324250.3(ZNF37A):c.883G>C (p.Gly295Arg)	ZNF37A (G295R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489767	NM_001324250.3(ZNF37A):c.893C>G (p.Pro298Arg)	ZNF37A (P298R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195423	NM_001324250.3(ZNF37A):c.1043C>T (p.Thr348Met)	ZNF37A (T348M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195424	NM_001324250.3(ZNF37A):c.1052G>A (p.Gly351Glu)	ZNF37A (G351E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195425	NM_001324250.3(ZNF37A):c.1075G>C (p.Glu359Gln)	ZNF37A (E359Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550254	NM_001324250.3(ZNF37A):c.1115T>C (p.Val372Ala)	ZNF37A (V372A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299576	NM_001324250.3(ZNF37A):c.1177C>G (p.Leu393Val)	ZNF37A (L393V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514504	NM_001324250.3(ZNF37A):c.1217C>T (p.Thr406Ile)	ZNF37A (T406I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195426	NM_001324250.3(ZNF37A):c.1250G>A (p.Gly417Glu)	ZNF37A (G417E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195427	NM_001324250.3(ZNF37A):c.1285C>A (p.His429Asn)	ZNF37A (H429N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540632	NM_001324250.3(ZNF37A):c.1288C>A (p.Leu430Ile)	ZNF37A (L430I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346186	NM_001324250.3(ZNF37A):c.1349A>G (p.Tyr450Cys)	ZNF37A (Y450C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407359	NM_001324250.3(ZNF37A):c.1352A>T (p.Tyr451Phe)	ZNF37A (Y451F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471948	NM_001324250.3(ZNF37A):c.1364C>T (p.Thr455Ile)	ZNF37A (T455I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195428	NM_001324250.3(ZNF37A):c.1396C>A (p.Pro466Thr)	ZNF37A (P466T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195429	NM_001324250.3(ZNF37A):c.1397C>G (p.Pro466Arg)	ZNF37A (P466R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362585	NM_001324250.3(ZNF37A):c.1430G>A (p.Arg477His)	ZNF37A (R477H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259556	NM_001324250.3(ZNF37A):c.1484A>G (p.Tyr495Cys)	ZNF37A (Y495C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621406	NM_001324250.3(ZNF37A):c.1541A>G (p.His514Arg)	ZNF37A (H514R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 155664	GRCh38/hg38 10p11.1(chr10:38140648-38777664)x3	LINC00999, ZNF37A	Copy number gain	See cases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527582	GRCh37/hg19 10p11.21-11.1(chr10:37697888-38677334)	MTRNR2L7, ZNF248 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 815339	GRCh37/hg19 10p11.1(chr10:38064033-38900673)x3	ZNF37A, ZNF248 +2 more	Copy number gain	not provided	GLikely benign
Select item 815338	GRCh37/hg19 10p11.21-11.1(chr10:37189335-38900673)x3	ZNF37A, ZNF25 +4 more	Copy number gain	not provided	GLikely benign
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 563782	GRCh37/hg19 10p11.21-11.1(chr10:36797203-38900673)x3	MTRNR2L7, ANKRD30A +4 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 49