HDGFL2[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 57480	GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	CHAF1A, DPP9 +33 more	Copy number loss	See cases	GUncertain significance
Select item 3104691	NM_001001520.3(HDGFL2):c.788C>T (p.Ser263Phe)	HDGFL2 (S263F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104692	NM_001001520.3(HDGFL2):c.850C>T (p.Leu284Phe)	HDGFL2 (L284F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104693	NM_001001520.3(HDGFL2):c.961G>A (p.Glu321Lys)	HDGFL2 (E321K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104689	NM_001001520.3(HDGFL2):c.1345C>T (p.Arg449Trp)	HDGFL2 (R449W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104690	NM_001001520.3(HDGFL2):c.1583G>A (p.Arg528His)	HDGFL2 (R528H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024805	NM_001001520.3(HDGFL2):c.1685A>G (p.Asn562Ser)	HDGFL2 (N562S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign