TIPARP[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 3177609	NM_015508.5(TIPARP):c.62A>G (p.Asp21Gly)	TIPARP (D21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489670	NM_015508.5(TIPARP):c.178T>A (p.Leu60Ile)	TIPARP (L60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281637	NM_015508.5(TIPARP):c.290A>G (p.Asn97Ser)	TIPARP (N97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339184	NM_015508.5(TIPARP):c.355G>A (p.Asp119Asn)	TIPARP (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337834	NM_015508.5(TIPARP):c.371C>T (p.Ala124Val)	TIPARP (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554985	NM_015508.5(TIPARP):c.376C>T (p.Pro126Ser)	TIPARP (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550517	NM_015508.5(TIPARP):c.406C>T (p.Pro136Ser)	TIPARP (P136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177608	NM_015508.5(TIPARP):c.467C>T (p.Pro156Leu)	TIPARP (P156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548294	NM_015508.5(TIPARP):c.473A>G (p.His158Arg)	TIPARP (H158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224726	NM_015508.5(TIPARP):c.487C>G (p.Leu163Val)	TIPARP (L163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462303	NM_015508.5(TIPARP):c.539A>G (p.Lys180Arg)	TIPARP (K180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569399	NM_015508.5(TIPARP):c.637G>A (p.Asp213Asn)	TIPARP (D213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546634	NM_015508.5(TIPARP):c.673G>C (p.Glu225Gln)	TIPARP (E225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377536	NM_015508.5(TIPARP):c.766G>T (p.Asp256Tyr)	TIPARP (D256Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597285	NM_015508.5(TIPARP):c.814A>G (p.Arg272Gly)	TIPARP (R272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507807	NM_015508.5(TIPARP):c.848A>G (p.Asn283Ser)	TIPARP (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735353	NM_015508.5(TIPARP):c.918-5T>C	TIPARP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2477551	NM_015508.5(TIPARP):c.974T>C (p.Phe325Ser)	TIPARP (F325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607860	NM_015508.5(TIPARP):c.981A>C (p.Gln327His)	TIPARP (Q327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516381	NM_015508.5(TIPARP):c.1036G>C (p.Val346Leu)	TIPARP (V346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559468	NM_015508.5(TIPARP):c.1187G>A (p.Arg396Lys)	TIPARP (R396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221027	NM_015508.5(TIPARP):c.1517A>G (p.Lys506Arg)	TIPARP (K506R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708663	NM_015508.5(TIPARP):c.1567A>C (p.Arg523=)	TIPARP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2566456	NM_015508.5(TIPARP):c.1672A>G (p.Met558Val)	TIPARP (M558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177605	NM_015508.5(TIPARP):c.1775T>C (p.Leu592Pro)	TIPARP (L592P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616759	NM_015508.5(TIPARP):c.1792A>C (p.Met598Leu)	TIPARP (M598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534011	NM_015508.5(TIPARP):c.1793T>C (p.Met598Thr)	TIPARP (M598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370552	NM_015508.5(TIPARP):c.1801C>T (p.His601Tyr)	TIPARP (H601Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532908	NM_015508.5(TIPARP):c.1867G>A (p.Val623Met)	TIPARP (V623M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177607	NM_015508.5(TIPARP):c.1966T>C (p.Ser656Pro)	TIPARP (S656P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312786	NM_015508.5(TIPARP):c.1966T>A (p.Ser656Thr)	TIPARP (S656T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814491	GRCh37/hg19 3q25.31(chr3:156194709-156591239)x1	TIPARP, SSR3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 48