20996[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 2220122	NM_018154.3(ASF1B):c.604A>G (p.Ile202Val)	ASF1B (I202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405832	NM_018154.3(ASF1B):c.526C>T (p.Leu176Phe)	ASF1B (L176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300373	NM_018154.3(ASF1B):c.473A>T (p.Asp158Val)	ASF1B (D158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491705	NM_018154.3(ASF1B):c.461A>G (p.Asp154Gly)	ASF1B (D154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491704	NM_018154.3(ASF1B):c.460G>A (p.Asp154Asn)	ASF1B (D154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514332	NM_018154.3(ASF1B):c.433C>T (p.Arg145Trp)	ASF1B (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306232	NM_018154.3(ASF1B):c.430C>T (p.Pro144Ser)	ASF1B (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310578	NM_018154.3(ASF1B):c.377C>T (p.Pro126Leu)	ASF1B (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541749	NM_018154.3(ASF1B):c.328G>A (p.Gly110Ser)	ASF1B (G110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459182	NM_018154.3(ASF1B):c.298A>G (p.Thr100Ala)	ASF1B (T100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244097	NM_018154.3(ASF1B):c.247C>G (p.Leu83Val)	ASF1B (L83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317938	NM_018154.3(ASF1B):c.229G>A (p.Asp77Asn)	ASF1B (D77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479796	NM_018154.3(ASF1B):c.187G>A (p.Gly63Ser)	ASF1B (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130288	NM_018154.3(ASF1B):c.153G>C (p.Glu51Asp)	ASF1B (E51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130287	NM_018154.3(ASF1B):c.106G>A (p.Asp36Asn)	ASF1B (D36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539081	NM_018154.3(ASF1B):c.68G>T (p.Arg23Leu)	ASF1B, LOC130063767 (R23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130290	NM_018154.3(ASF1B):c.8A>G (p.Lys3Arg)	ASF1B (K3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
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 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 32