25649[HGNC] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 2649279	NM_018381.4(SHFL):c.243G>A (p.Ala81=)	SHFL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3161687	NM_018381.4(SHFL):c.467C>A (p.Pro156Gln)	SHFL (P156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161688	NM_018381.4(SHFL):c.844G>A (p.Val282Met)	SHFL (V282M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535314	NM_031917.3(ANGPTL6):c.1363G>A (p.Ala455Thr)	ANGPTL6, SHFL (A455T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366571	NM_031917.3(ANGPTL6):c.1316G>A (p.Arg439Gln)	ANGPTL6, SHFL (R439Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2309780	NM_031917.3(ANGPTL6):c.1291G>A (p.Val431Met)	ANGPTL6, SHFL (V431M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 801417	NM_001130823.3(DNMT1):c.3458_3466dup (p.Pro1153_Leu1155dup)	DNMT1, SHFL	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 801418	NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys)	DNMT1, SHFL (Y540C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 560043	Single allele	ANGPTL6, EIF3G +5 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic