ClinVar for Gene (Select 80124) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331958	NM_025054.5(VCPIP1):c.3115C>A (p.Pro1039Thr)	VCPIP1 (P1039T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331957	NM_025054.5(VCPIP1):c.2711G>A (p.Gly904Glu)	VCPIP1 (G904E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331955	NM_025054.5(VCPIP1):c.2417G>C (p.Arg806Thr)	VCPIP1 (R806T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331954	NM_025054.5(VCPIP1):c.3451G>C (p.Gly1151Arg)	VCPIP1 (G1151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331953	NM_025054.5(VCPIP1):c.3539C>T (p.Ala1180Val)	VCPIP1 (A1180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331952	NM_025054.5(VCPIP1):c.3190T>A (p.Ser1064Thr)	VCPIP1 (S1064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331951	NM_025054.5(VCPIP1):c.1527C>G (p.Ser509Arg)	VCPIP1 (S509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331950	NM_025054.5(VCPIP1):c.2016C>A (p.His672Gln)	VCPIP1 (H672Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331949	NM_025054.5(VCPIP1):c.2792C>A (p.Thr931Asn)	VCPIP1 (T931N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331948	NM_025054.5(VCPIP1):c.3545C>T (p.Ala1182Val)	VCPIP1 (A1182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331947	NM_025054.5(VCPIP1):c.3434G>A (p.Ser1145Asn)	VCPIP1 (S1145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331946	NM_025054.5(VCPIP1):c.2311A>C (p.Thr771Pro)	VCPIP1 (T771P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188367	NM_025054.5(VCPIP1):c.67A>G (p.Thr23Ala)	LOC130000540, VCPIP1 (T23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188366	NM_025054.5(VCPIP1):c.3363C>G (p.Asp1121Glu)	VCPIP1 (D1121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188365	NM_025054.5(VCPIP1):c.3257C>T (p.Pro1086Leu)	VCPIP1 (P1086L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188364	NM_025054.5(VCPIP1):c.3229A>G (p.Ser1077Gly)	VCPIP1 (S1077G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188363	NM_025054.5(VCPIP1):c.2846C>A (p.Thr949Asn)	VCPIP1 (T949N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188362	NM_025054.5(VCPIP1):c.262G>A (p.Val88Met)	LOC130000540, VCPIP1 (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188361	NM_025054.5(VCPIP1):c.2296C>T (p.Pro766Ser)	VCPIP1 (P766S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188360	NM_025054.5(VCPIP1):c.2285C>A (p.Pro762His)	VCPIP1 (P762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188359	NM_025054.5(VCPIP1):c.1651G>A (p.Gly551Arg)	VCPIP1 (G551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188358	NM_025054.5(VCPIP1):c.107T>C (p.Leu36Pro)	LOC130000540, VCPIP1 (L36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +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 2603310	NM_025054.5(VCPIP1):c.1970A>C (p.Lys657Thr)	VCPIP1 (K657T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588668	NM_025054.5(VCPIP1):c.3416G>A (p.Arg1139Lys)	VCPIP1 (R1139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588445	NM_025054.5(VCPIP1):c.1388A>G (p.Asp463Gly)	VCPIP1 (D463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554557	NM_025054.5(VCPIP1):c.46C>T (p.Pro16Ser)	LOC130000540, VCPIP1 (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538937	NM_025054.5(VCPIP1):c.500C>T (p.Ala167Val)	LOC130000540, VCPIP1 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534723	NM_025054.5(VCPIP1):c.1510A>C (p.Thr504Pro)	VCPIP1 (T504P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534104	NM_025054.5(VCPIP1):c.1694C>T (p.Ser565Phe)	VCPIP1 (S565F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529411	NM_025054.5(VCPIP1):c.3506A>T (p.Asn1169Ile)	VCPIP1 (N1169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463516	NM_025054.5(VCPIP1):c.2426A>G (p.Asn809Ser)	VCPIP1 (N809S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409489	NM_025054.5(VCPIP1):c.1403A>G (p.Lys468Arg)	VCPIP1 (K468R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385706	NM_025054.5(VCPIP1):c.100G>C (p.Gly34Arg)	LOC130000540, VCPIP1 (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377665	NM_025054.5(VCPIP1):c.1840A>C (p.Ser614Arg)	VCPIP1 (S614R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370761	NM_025054.5(VCPIP1):c.2242C>T (p.Pro748Ser)	VCPIP1 (P748S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360323	NM_025054.5(VCPIP1):c.3374G>A (p.Arg1125Gln)	VCPIP1 (R1125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290607	NM_025054.5(VCPIP1):c.2210A>G (p.Gln737Arg)	VCPIP1 (Q737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273953	NM_025054.5(VCPIP1):c.153T>A (p.Asp51Glu)	LOC130000540, VCPIP1 (D51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254559	NM_025054.5(VCPIP1):c.1384A>T (p.Met462Leu)	VCPIP1 (M462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251229	NM_025054.5(VCPIP1):c.2510C>G (p.Pro837Arg)	VCPIP1 (P837R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219861	NM_025054.5(VCPIP1):c.2962G>A (p.Ala988Thr)	VCPIP1 (A988T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +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	AARD, ABRA +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)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 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 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 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 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68