PCLAF[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 3210246	NM_014736.6(PCLAF):c.289A>G (p.Lys97Glu)	PCLAF (K97E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210245	NM_014736.6(PCLAF):c.163G>A (p.Val55Met)	PCLAF (V55M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210244	NM_014736.6(PCLAF):c.154C>A (p.Pro52Thr)	PCLAF (P52T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487093	NM_014736.6(PCLAF):c.97A>G (p.Thr33Ala)	PCLAF (T33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623155	NM_014736.6(PCLAF):c.71A>G (p.Lys24Arg)	PCLAF (K24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210247	NM_014736.6(PCLAF):c.65C>T (p.Pro22Leu)	PCLAF (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, RPS27L +19 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 815729	GRCh37/hg19 15q22.31(chr15:64644933-64736092)x1	TRIP4, PCLAF +1 more	Copy number loss	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253982	GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3	RBPMS2, ZNF609 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic