GAPT[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 3098322	NM_001304431.2(GAPT):c.29C>T (p.Ala10Val)	GAPT (A10V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533713	NM_001304431.2(GAPT):c.109G>T (p.Val37Phe)	GAPT (V37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489881	NM_001304431.2(GAPT):c.173C>A (p.Thr58Asn)	GAPT (T58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366870	NM_001304431.2(GAPT):c.202G>A (p.Gly68Ser)	GAPT (G68S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098321	NM_001304431.2(GAPT):c.206T>C (p.Leu69Ser)	GAPT (L69S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490464	NM_001304431.2(GAPT):c.212A>G (p.His71Arg)	GAPT (H71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785125	NM_001304431.2(GAPT):c.240C>T (p.His80=)	GAPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2285111	NM_001304431.2(GAPT):c.241A>G (p.Lys81Glu)	GAPT (K81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782451	NM_001304431.2(GAPT):c.247G>A (p.Ala83Thr)	GAPT (A83T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2559079	NM_001304431.2(GAPT):c.250G>C (p.Val84Leu)	GAPT (V84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614923	NM_001304431.2(GAPT):c.332T>C (p.Leu111Pro)	GAPT (L111P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280701	NM_001304431.2(GAPT):c.395A>G (p.Asp132Gly)	GAPT (D132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098323	NM_001304431.2(GAPT):c.401A>G (p.Tyr134Cys)	GAPT (Y134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401750	NM_001304431.2(GAPT):c.449T>C (p.Ile150Thr)	GAPT (I150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2684417	GRCh37/hg19 5q11.2(chr5:57769864-58521876)x3	GAPT, PDE4D +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684416	GRCh37/hg19 5q11.2(chr5:57430832-57796291)x3	GAPT, PLK2	Copy number gain	not provided	GUncertain significance
Select item 685431	GRCh37/hg19 5q11.2(chr5:56283070-58079028)x1	ACTBL2, GAPT +3 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563066	GRCh37/hg19 5q11.2(chr5:56574178-58587671)x1	RAB3C, ACTBL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 27