VCPIP1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	LOC130000495, LOC130000496 +150 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 2529411	NM_025054.5(VCPIP1):c.3506A>T (p.Asn1169Ile)	VCPIP1 (N1169I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588668	NM_025054.5(VCPIP1):c.3416G>A (p.Arg1139Lys)	VCPIP1 (R1139K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360323	NM_025054.5(VCPIP1):c.3374G>A (p.Arg1125Gln)	VCPIP1 (R1125Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219861	NM_025054.5(VCPIP1):c.2962G>A (p.Ala988Thr)	VCPIP1 (A988T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251229	NM_025054.5(VCPIP1):c.2510C>G (p.Pro837Arg)	VCPIP1 (P837R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463516	NM_025054.5(VCPIP1):c.2426A>G (p.Asn809Ser)	VCPIP1 (N809S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370761	NM_025054.5(VCPIP1):c.2242C>T (p.Pro748Ser)	VCPIP1 (P748S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290607	NM_025054.5(VCPIP1):c.2210A>G (p.Gln737Arg)	VCPIP1 (Q737R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603310	NM_025054.5(VCPIP1):c.1970A>C (p.Lys657Thr)	VCPIP1 (K657T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377665	NM_025054.5(VCPIP1):c.1840A>C (p.Ser614Arg)	VCPIP1 (S614R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534104	NM_025054.5(VCPIP1):c.1694C>T (p.Ser565Phe)	VCPIP1 (S565F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534723	NM_025054.5(VCPIP1):c.1510A>C (p.Thr504Pro)	VCPIP1 (T504P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2409489	NM_025054.5(VCPIP1):c.1403A>G (p.Lys468Arg)	VCPIP1 (K468R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588445	NM_025054.5(VCPIP1):c.1388A>G (p.Asp463Gly)	VCPIP1 (D463G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254559	NM_025054.5(VCPIP1):c.1384A>T (p.Met462Leu)	VCPIP1 (M462L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538937	NM_025054.5(VCPIP1):c.500C>T (p.Ala167Val)	LOC130000540, VCPIP1 (A167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273953	NM_025054.5(VCPIP1):c.153T>A (p.Asp51Glu)	LOC130000540, VCPIP1 (D51E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385706	NM_025054.5(VCPIP1):c.100G>C (p.Gly34Arg)	LOC130000540, VCPIP1 (G34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554557	NM_025054.5(VCPIP1):c.46C>T (p.Pro16Ser)	LOC130000540, VCPIP1 (P16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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Items: 46