TP53I13[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 2509426	NM_198147.3(ABHD15):c.578G>C (p.Arg193Pro)	ABHD15, TP53I13 (R193P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261966	NM_198147.3(ABHD15):c.565G>T (p.Val189Phe)	ABHD15, TP53I13 (V189F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218045	NM_198147.3(ABHD15):c.560A>G (p.Tyr187Cys)	TP53I13, ABHD15 (Y187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540742	NM_198147.3(ABHD15):c.439G>A (p.Gly147Ser)	ABHD15, TP53I13 (G147S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647615	NM_198147.3(ABHD15):c.46G>C (p.Ala16Pro)	ABHD15, LOC130060609 +1 more (A16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280451	NM_138349.4(TP53I13):c.28C>G (p.Leu10Val)	LOC130060612, TP53I13 (L10V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2233886	NM_138349.4(TP53I13):c.49G>T (p.Ala17Ser)	LOC130060612, TP53I13 (A17S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321717	NM_138349.4(TP53I13):c.69C>G (p.Ser23Arg)	LOC130060612, TP53I13 (S23R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2361122	NM_138349.4(TP53I13):c.103G>A (p.Ala35Thr)	TP53I13 (A10T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516265	NM_138349.4(TP53I13):c.169G>A (p.Val57Met)	TP53I13 (V57M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2600491	NM_138349.4(TP53I13):c.286C>T (p.Pro96Ser)	TP53I13 (P71S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2545855	NM_138349.4(TP53I13):c.314C>G (p.Pro105Arg)	TP53I13 (P105R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410584	NM_138349.4(TP53I13):c.370T>C (p.Trp124Arg)	TP53I13 (W81R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521601	NM_138349.4(TP53I13):c.464C>T (p.Ser155Phe)	TP53I13 (S39F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460233	NM_138349.4(TP53I13):c.500G>C (p.Arg167Thr)	TP53I13 (R142T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287347	NM_138349.4(TP53I13):c.508G>A (p.Val170Met)	TP53I13 (V54M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464733	NM_138349.4(TP53I13):c.527C>A (p.Ala176Asp)	TP53I13 (A151D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300446	NM_138349.4(TP53I13):c.538C>T (p.Arg180Trp)	TP53I13 (R137W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245050	NM_138349.4(TP53I13):c.642G>C (p.Gln214His)	TP53I13 (Q189H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207771	NM_138349.4(TP53I13):c.649C>T (p.Arg217Cys)	TP53I13 (R101C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556861	NM_138349.4(TP53I13):c.710C>T (p.Ala237Val)	TP53I13 (A237V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2370456	NM_138349.4(TP53I13):c.830G>A (p.Ser277Asn)	TP53I13 (S161N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402101	NM_138349.4(TP53I13):c.860C>T (p.Ala287Val)	TP53I13 (A244V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544943	NM_138349.4(TP53I13):c.878C>T (p.Ala293Val)	TP53I13 (A177V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363375	NM_138349.4(TP53I13):c.914C>G (p.Pro305Arg)	TP53I13 (P262R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371988	NM_138349.4(TP53I13):c.931G>T (p.Ala311Ser)	TP53I13 (A286S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466223	NM_138349.4(TP53I13):c.1054C>G (p.Gln352Glu)	TP53I13 (Q352E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231938	NM_138349.4(TP53I13):c.1141C>T (p.Pro381Ser)	TP53I13 (P338S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037847	NM_014030.4(GIT1):c.*3TC[2]	GIT1, TP53I13	Microsatellite (3 prime UTR variant)	GIT1-related condition	GLikely benign
Select item 3050178	NM_014030.4(GIT1):c.2151G>A (p.Arg717=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 2479387	NM_014030.4(GIT1):c.2119G>A (p.Ala707Thr)	GIT1, TP53I13 (A707T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044309	NM_014030.4(GIT1):c.2010-4G>A	GIT1, TP53I13	Single nucleotide variant (intron variant)	GIT1-related condition	GLikely benign
Select item 3054246	NM_014030.4(GIT1):c.1866A>G (p.Glu622=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 2606524	NM_014030.4(GIT1):c.1834G>T (p.Gly612Trp)	GIT1, TP53I13 (G612W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608780	NM_014030.4(GIT1):c.1790A>C (p.Asp597Ala)	GIT1, TP53I13 (D597A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521586	NM_014030.4(GIT1):c.1751C>T (p.Thr584Met)	GIT1, TP53I13 (T584M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205877	NM_014030.4(GIT1):c.1663C>T (p.Arg555Trp)	TP53I13, GIT1 (R555W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041352	NM_014030.4(GIT1):c.1641G>A (p.Val547=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 1343217	NM_014030.4(GIT1):c.1568dup (p.Gly524fs)	GIT1, TP53I13 (G524fs +1 more)	Duplication (frameshift variant)	Developmental disorder	GUncertain significance
Select item 3039162	NM_014030.4(GIT1):c.1548G>C (p.Leu516=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 3034196	NM_014030.4(GIT1):c.1545C>T (p.Ala515=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 2471749	NM_014030.4(GIT1):c.1463C>T (p.Ala488Val)	GIT1, TP53I13 (A488V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349421	NM_014030.4(GIT1):c.1462G>A (p.Ala488Thr)	GIT1, TP53I13 (A497T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324508	NM_014030.4(GIT1):c.1447C>T (p.Leu483Phe)	GIT1, TP53I13 (L492F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647616	NM_014030.4(GIT1):c.1415G>A (p.Arg472Gln)	GIT1, TP53I13 (R472Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2378892	NM_014030.4(GIT1):c.1364G>A (p.Arg455Gln)	TP53I13, GIT1 (R455Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048055	NM_014030.4(GIT1):c.1254C>T (p.Asp418=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 2264805	NM_014030.4(GIT1):c.1241C>T (p.Ser414Leu)	TP53I13, GIT1 (S423L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340269	NM_014030.4(GIT1):c.1226G>A (p.Arg409Gln)	TP53I13, GIT1 (R409Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040526	NM_014030.4(GIT1):c.1200C>T (p.Thr400=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GBenign
Select item 717463	NM_014030.4(GIT1):c.1110T>G (p.Ser370=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2518103	NM_014030.4(GIT1):c.1039A>G (p.Ile347Val)	GIT1, TP53I13 (I356V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379083	NM_014030.4(GIT1):c.932C>T (p.Ala311Val)	TP53I13, GIT1 (A320V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036450	NM_014030.4(GIT1):c.750G>A (p.Gln250=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 2232979	NM_014030.4(GIT1):c.739A>G (p.Ile247Val)	GIT1, TP53I13 (I247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039427	NM_014030.4(GIT1):c.663G>A (p.Glu221=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related condition	GLikely benign
Select item 2272010	NM_014030.4(GIT1):c.556C>G (p.Leu186Val)	TP53I13, GIT1 (L186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	ABHD15, ADAP2 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 980157	GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	TAOK1, SSH2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 68