ClinVar for Gene (Select 116143) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3502861	NM_138458.4(DNAAF10):c.122G>A (p.Arg41Gln)	DNAAF10 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3502860	NM_138458.4(DNAAF10):c.922G>A (p.Ala308Thr)	DNAAF10 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3502859	NM_138458.4(DNAAF10):c.22C>G (p.Gln8Glu)	DNAAF10 (Q8E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3502858	NM_138458.4(DNAAF10):c.607C>T (p.Arg203Trp)	DNAAF10 (R203W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3502857	NM_138458.4(DNAAF10):c.337A>G (p.Ile113Val)	DNAAF10 (I113V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272513	NM_138458.4(DNAAF10):c.14A>G (p.Glu5Gly)	DNAAF10 (E5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272512	NM_138458.4(DNAAF10):c.83C>G (p.Pro28Arg)	DNAAF10 (P28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272511	NM_138458.4(DNAAF10):c.583T>G (p.Phe195Val)	DNAAF10 (F195V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272510	NM_138458.4(DNAAF10):c.71G>C (p.Cys24Ser)	DNAAF10 (C24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083320	NM_138458.4(DNAAF10):c.995A>G (p.Asp332Gly)	DNAAF10 (D332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083319	NM_138458.4(DNAAF10):c.991C>A (p.Pro331Thr)	DNAAF10 (P331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083318	NM_138458.4(DNAAF10):c.884G>A (p.Arg295Gln)	DNAAF10 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083317	NM_138458.4(DNAAF10):c.883C>T (p.Arg295Trp)	DNAAF10 (R295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083316	NM_138458.4(DNAAF10):c.877A>G (p.Ile293Val)	DNAAF10 (I293V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083315	NM_138458.4(DNAAF10):c.86G>A (p.Cys29Tyr)	DNAAF10 (C29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083314	NM_138458.4(DNAAF10):c.853C>A (p.His285Asn)	DNAAF10 (H285N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083313	NM_138458.4(DNAAF10):c.82C>A (p.Pro28Thr)	DNAAF10 (P28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083312	NM_138458.4(DNAAF10):c.7G>A (p.Ala3Thr)	DNAAF10 (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083311	NM_138458.4(DNAAF10):c.676A>G (p.Lys226Glu)	DNAAF10 (K226E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083310	NM_138458.4(DNAAF10):c.664A>C (p.Ile222Leu)	DNAAF10 (I222L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083309	NM_138458.4(DNAAF10):c.19C>T (p.Pro7Ser)	DNAAF10 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083308	NM_138458.4(DNAAF10):c.1051G>A (p.Val351Ile)	DNAAF10 (V351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2542983	NM_138458.4(DNAAF10):c.1012G>A (p.Val338Ile)	DNAAF10 (V338I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519549	NM_138458.4(DNAAF10):c.172C>G (p.Leu58Val)	DNAAF10 (L58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2489414	NM_138458.4(DNAAF10):c.890A>G (p.Lys297Arg)	DNAAF10 (K297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454347	NM_138458.4(DNAAF10):c.160G>A (p.Gly54Arg)	DNAAF10 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ACMSD, ALLC +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 625545	GRCh37/hg19 2p14-13.3(chr2:67491378-69679404)	ANTXR1, APLF +15 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	CCDC85A, CCDC88A +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LINC01851, LINC01867 +2458 more	Copy number gain	See cases	GBenign
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +217 more	Copy number loss	See cases	GLikely pathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +769 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38