GIT2[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
Select item 2393518	NM_057169.5(GIT2):c.2102G>A (p.Arg701His)	GIT2, LOC126861635 (R650H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217858	NM_057169.5(GIT2):c.2032G>A (p.Val678Ile)	GIT2 (V598I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1276394	NM_057169.5(GIT2):c.1655C>T (p.Ala552Val)	GIT2 (A501V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2306744	NM_057169.5(GIT2):c.1651A>C (p.Ser551Arg)	GIT2 (S551R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535656	NM_057169.5(GIT2):c.1603G>A (p.Glu535Lys)	GIT2 (E487K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346813	NM_057169.5(GIT2):c.1522C>T (p.Arg508Trp)	GIT2 (R458W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2348033	NM_057169.5(GIT2):c.1369G>A (p.Glu457Lys)	GIT2 (E457K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246802	NM_057169.5(GIT2):c.1312G>T (p.Val438Leu)	GIT2 (V438L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 785425	NM_057169.5(GIT2):c.1236G>A (p.Arg412=)	GIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477512	NM_057169.5(GIT2):c.1166A>G (p.Gln389Arg)	GIT2 (Q389R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287689	NM_057169.5(GIT2):c.1160A>G (p.Asn387Ser)	GIT2 (N386S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257104	NM_057169.5(GIT2):c.1031C>T (p.Thr344Met)	GIT2 (T343M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776750	NM_057169.5(GIT2):c.1013A>G (p.Asn338Ser)	GIT2 (N337S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2277450	NM_057169.5(GIT2):c.935C>T (p.Thr312Met)	GIT2 (T311M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621122	NM_057169.5(GIT2):c.912C>A (p.His304Gln)	GIT2 (H303Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367484	NM_057169.5(GIT2):c.853G>A (p.Val285Met)	GIT2 (V287M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408915	NM_057169.5(GIT2):c.812A>G (p.Gln271Arg)	GIT2 (Q271R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608189	NM_057169.5(GIT2):c.587A>G (p.Gln196Arg)	GIT2 (Q196R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770611	NM_057169.5(GIT2):c.375C>T (p.Asp125=)	GIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779353	NM_057169.5(GIT2):c.369G>A (p.Arg123=)	GIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373324	NM_057169.5(GIT2):c.360G>T (p.Leu120Phe)	GIT2 (L120F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339251	NM_057169.5(GIT2):c.310G>A (p.Ala104Thr)	GIT2 (A104T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304912	NM_057169.5(GIT2):c.283C>T (p.Pro95Ser)	GIT2 (P95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341652	NM_057169.5(GIT2):c.16C>T (p.Arg6Trp)	GIT2 (R6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267639	NM_033121.2(ANKRD13A):c.28C>A (p.His10Asn)	ANKRD13A, GIT2 (H10N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 33