ASPRV1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2469116	NM_002357.4(MXD1):c.241G>C (p.Gly81Arg)	ASPRV1, MXD1 (G81R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530277	NM_002357.4(MXD1):c.380G>A (p.Arg127Gln)	ASPRV1, MXD1 (R127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297106	NM_002357.4(MXD1):c.397C>A (p.Leu133Met)	ASPRV1, MXD1 (L123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369081	NM_002357.4(MXD1):c.448G>A (p.Val150Ile)	ASPRV1, MXD1 (V150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152077	NM_002357.4(MXD1):c.461G>A (p.Arg154His)	ASPRV1, MXD1 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366149	NM_002357.4(MXD1):c.544A>G (p.Ser182Gly)	ASPRV1, MXD1 (S181G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602345	NM_002357.4(MXD1):c.586G>A (p.Gly196Ser)	ASPRV1, MXD1 (G186S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518965	NM_002357.4(MXD1):c.611C>T (p.Thr204Ile)	ASPRV1, MXD1 (T194I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333742	NM_002357.4(MXD1):c.630G>T (p.Lys210Asn)	ASPRV1, MXD1 (K200N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297105	NM_002357.4(MXD1):c.639C>G (p.Asp213Glu)	ASPRV1, MXD1 (D203E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318789	NM_152792.4(ASPRV1):c.749C>T (p.Ser250Leu)	ASPRV1 (S250L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 977278	NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr)	ASPRV1 (P314T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant lamellar ichthyosis	GPathogenic
Select item 977279	NM_152792.4(ASPRV1):c.680G>C (p.Arg227Pro)	ASPRV1 (R311P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant lamellar ichthyosis	GPathogenic
Select item 3130511	NM_152792.4(ASPRV1):c.578C>T (p.Ala193Val)	ASPRV1 (A277V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318797	NM_152792.4(ASPRV1):c.548A>T (p.Lys183Met)	ASPRV1 (K183M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372082	NM_152792.4(ASPRV1):c.527C>T (p.Ala176Val)	ASPRV1 (A176V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3130510	NM_152792.4(ASPRV1):c.514G>T (p.Val172Phe)	ASPRV1 (V172F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2651012	NM_152792.4(ASPRV1):c.480G>A (p.Lys160=)	ASPRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3318806	NM_152792.4(ASPRV1):c.395A>C (p.Gln132Pro)	ASPRV1 (Q132P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 977277	NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu)	ASPRV1 (K199E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant lamellar ichthyosis	GPathogenic
Select item 2298321	NM_152792.4(ASPRV1):c.269T>A (p.Val90Asp)	ASPRV1 (V90D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338524	NM_152792.4(ASPRV1):c.205C>T (p.Leu69Phe)	ASPRV1 (L69F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318762	NM_152792.4(ASPRV1):c.146C>T (p.Thr49Ile)	ASPRV1 (T49I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490443	NM_152792.4(ASPRV1):c.91C>T (p.Leu31Phe)	ASPRV1 (L115F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237993	NM_152792.4(ASPRV1):c.88A>G (p.Asn30Asp)	ASPRV1 (N30D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318753	NM_152792.4(ASPRV1):c.82G>A (p.Val28Ile)	ASPRV1 (V28I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229499	NM_152792.4(ASPRV1):c.34C>T (p.Arg12Cys)	ASPRV1 (R12C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492991	NM_152792.4(ASPRV1):c.4G>C (p.Ala2Pro)	ASPRV1 (A2P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273741	NM_152792.4(ASPRV1):c.-3A>G	ASPRV1 (R84G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3318813	NM_152792.4(ASPRV1):c.-71C>T	ASPRV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210627	NM_152792.4(ASPRV1):c.-126G>A	ASPRV1, LOC122757966 (A43T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3318772	NM_152792.4(ASPRV1):c.-152C>T	ASPRV1, LOC122757966	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 161818	NM_152792.4(ASPRV1):c.-158C>T	LOC122757966, ASPRV1 (P32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130512	NM_152792.4(ASPRV1):c.-161A>T	ASPRV1, LOC122757966 (Q31L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3130509	NM_152792.3(ASPRV1):c.23T>C (p.Leu8Pro)	ASPRV1, LOC122757966 (L8P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316322	NM_152792.3(ASPRV1):c.20G>A (p.Ser7Asn)	ASPRV1, LOC122757966 (S7N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	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)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 221423	GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3	ASPRV1, GMCL1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 49