VASP[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 2526102	NM_003370.4(VASP):c.29G>A (p.Arg10Gln)	VASP (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297351	NM_003370.4(VASP):c.280G>C (p.Gly94Arg)	VASP (G94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788021	NM_003370.4(VASP):c.310G>A (p.Ala104Thr)	VASP (A104T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387667	NM_003370.4(VASP):c.383C>G (p.Ser128Trp)	VASP (S128W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609131	NM_003370.4(VASP):c.403C>G (p.Pro135Ala)	VASP (P135A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333059	NM_003370.4(VASP):c.404C>T (p.Pro135Leu)	VASP (P135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373800	NM_003370.4(VASP):c.420G>T (p.Gln140His)	VASP (Q140H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308427	NM_003370.4(VASP):c.439G>A (p.Gly147Ser)	VASP (G147S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545158	NM_003370.4(VASP):c.473A>G (p.Asn158Ser)	VASP (N158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522959	NM_003370.4(VASP):c.488C>T (p.Pro163Leu)	VASP (P163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382507	NM_003370.4(VASP):c.551C>T (p.Pro184Leu)	VASP (P184L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347674	NM_003370.4(VASP):c.551C>A (p.Pro184Gln)	VASP (P184Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554465	NM_003370.4(VASP):c.605G>A (p.Gly202Glu)	VASP (G202E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355298	NM_003370.4(VASP):c.632C>T (p.Pro211Leu)	VASP (P211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374199	NM_003370.4(VASP):c.650G>C (p.Gly217Ala)	VASP (G217A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531559	NM_003370.4(VASP):c.726G>C (p.Glu242Asp)	VASP (E242D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341473	NM_003370.4(VASP):c.833C>T (p.Thr278Met)	VASP (T278M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290386	NM_003370.4(VASP):c.851C>T (p.Thr284Ile)	VASP (T284I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788022	NM_003370.4(VASP):c.910+9_910+10del	VASP	Microsatellite (intron variant)	not provided	GBenign
Select item 2481068	NM_003370.4(VASP):c.914C>G (p.Ser305Cys)	VASP (S305C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331481	NM_003370.4(VASP):c.928T>C (p.Trp310Arg)	VASP (W310R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263412	NM_003370.4(VASP):c.1050G>T (p.Glu350Asp)	VASP (E350D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564588	GRCh37/hg19 19q13.32(chr19:45945375-46215558)x3	EML2, SNRPD2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 34