ClinVar for Gene (Select 28964) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281424	NM_014030.4(GIT1):c.762-205C>T	GIT1, TP53I13 (R256W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281423	NM_014030.4(GIT1):c.1332G>A (p.Met444Ile)	GIT1, TP53I13 (M453I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281422	NM_014030.4(GIT1):c.1781C>G (p.Ala594Gly)	GIT1, TP53I13 (A594G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281421	NM_014030.4(GIT1):c.1664G>A (p.Arg555Gln)	GIT1, TP53I13 (R555Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281420	NM_014030.4(GIT1):c.668A>T (p.Gln223Leu)	GIT1, TP53I13 (Q223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281419	NM_014030.4(GIT1):c.1651G>A (p.Ala551Thr)	GIT1, TP53I13 (A560T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281418	NM_014030.4(GIT1):c.1459C>T (p.Arg487Trp)	GIT1, TP53I13 (R487W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281417	NM_014030.4(GIT1):c.1186C>A (p.Pro396Thr)	GIT1, TP53I13 (P405T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099915	NM_014030.4(GIT1):c.775G>A (p.Glu259Lys)	GIT1, TP53I13 (E259K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099914	NM_014030.4(GIT1):c.548C>G (p.Ala183Gly)	GIT1, TP53I13 (A183G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099913	NM_014030.4(GIT1):c.50C>T (p.Pro17Leu)	GIT1 (P17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099912	NM_014030.4(GIT1):c.2129A>G (p.Tyr710Cys)	GIT1, TP53I13 (Y710C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099911	NM_014030.4(GIT1):c.1844T>A (p.Phe615Tyr)	GIT1, TP53I13 (F624Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099909	NM_014030.4(GIT1):c.1708T>G (p.Ser570Ala)	GIT1, TP53I13 (S570A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099908	NM_014030.4(GIT1):c.1639G>T (p.Val547Leu)	GIT1, TP53I13 (V547L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099907	NM_014030.4(GIT1):c.1592T>C (p.Leu531Pro)	GIT1, TP53I13 (L531P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099906	NM_014030.4(GIT1):c.1556T>A (p.Phe519Tyr)	GIT1, TP53I13 (F519Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099904	NM_014030.4(GIT1):c.1156G>A (p.Val386Met)	GIT1, TP53I13 (V386M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099903	NM_014030.4(GIT1):c.1100T>C (p.Leu367Pro)	GIT1, TP53I13 (L367P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054246	NM_014030.4(GIT1):c.1866A>G (p.Glu622=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3050178	NM_014030.4(GIT1):c.2151G>A (p.Arg717=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3050096	NM_014030.4(GIT1):c.387C>A (p.Thr129=)	GIT1	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3048055	NM_014030.4(GIT1):c.1254C>T (p.Asp418=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3045426	NM_014030.4(GIT1):c.150C>T (p.His50=)	GIT1	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3044309	NM_014030.4(GIT1):c.2010-4G>A	GIT1, TP53I13	Single nucleotide variant (intron variant)	GIT1-related disorder	GLikely benign
Select item 3041352	NM_014030.4(GIT1):c.1641G>A (p.Val547=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3040526	NM_014030.4(GIT1):c.1200C>T (p.Thr400=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GBenign
Select item 3039427	NM_014030.4(GIT1):c.663G>A (p.Glu221=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3039162	NM_014030.4(GIT1):c.1548G>C (p.Leu516=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3037847	NM_014030.4(GIT1):c.*3TC[2]	GIT1, TP53I13	Microsatellite (3 prime UTR variant)	GIT1-related disorder	GLikely benign
Select item 3036450	NM_014030.4(GIT1):c.750G>A (p.Gln250=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
Select item 3034196	NM_014030.4(GIT1):c.1545C>T (p.Ala515=)	GIT1, TP53I13	Single nucleotide variant (synonymous variant)	GIT1-related disorder	GLikely benign
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 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 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 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 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 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 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 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	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2379083	NM_014030.4(GIT1):c.932C>T (p.Ala311Val)	GIT1, TP53I13 (A320V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378892	NM_014030.4(GIT1):c.1364G>A (p.Arg455Gln)	GIT1, TP53I13 (R455Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373541	NM_014030.4(GIT1):c.155G>A (p.Arg52His)	GIT1 (R52H)	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 2340269	NM_014030.4(GIT1):c.1226G>A (p.Arg409Gln)	GIT1, TP53I13 (R409Q +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 2272010	NM_014030.4(GIT1):c.556C>G (p.Leu186Val)	GIT1, TP53I13 (L186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264805	NM_014030.4(GIT1):c.1241C>T (p.Ser414Leu)	GIT1, TP53I13 (S423L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234523	NM_014030.4(GIT1):c.107G>C (p.Ser36Thr)	GIT1 (S36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2205877	NM_014030.4(GIT1):c.1663C>T (p.Arg555Trp)	GIT1, TP53I13 (R555W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
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 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 778685	NM_014030.4(GIT1):c.249C>T (p.Pro83=)	GIT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717636	NM_014030.4(GIT1):c.405+9G>A	GIT1	Single nucleotide variant (intron variant)	not provided	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 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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 65