17292[HGNC] - ClinVar

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Items: 68

	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 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2285105	NM_020428.4(SLC44A2):c.4G>T (p.Gly2Trp)	SLC44A2 (G2W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319838	NM_020428.4(SLC44A2):c.40A>G (p.Thr14Ala)	SLC44A2 (T14A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217712	NM_020428.4(SLC44A2):c.47A>T (p.Gln16Leu)	SLC44A2 (Q14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368890	NM_020428.4(SLC44A2):c.115T>A (p.Phe39Ile)	SLC44A2 (F39I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358518	NM_020428.4(SLC44A2):c.142G>A (p.Val48Met)	SLC44A2 (V46M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358870	NM_020428.4(SLC44A2):c.361C>T (p.Leu121Phe)	SLC44A2 (L119F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291540	NM_020428.4(SLC44A2):c.430A>C (p.Lys144Gln)	SLC44A2 (K142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2649298	NM_020428.4(SLC44A2):c.457C>T (p.Leu153Phe)	SLC44A2 (L151F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3164825	NM_020428.4(SLC44A2):c.509G>C (p.Arg170Pro)	SLC44A2 (R168P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347441	NM_020428.4(SLC44A2):c.509G>A (p.Arg170Gln)	SLC44A2 (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164826	NM_020428.4(SLC44A2):c.518T>G (p.Phe173Cys)	SLC44A2 (F171C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319837	NM_020428.4(SLC44A2):c.545T>C (p.Val182Ala)	SLC44A2 (V182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492200	NM_020428.4(SLC44A2):c.592C>T (p.Arg198Trp)	SLC44A2 (R196W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164827	NM_020428.4(SLC44A2):c.689T>A (p.Val230Asp)	SLC44A2 (V228D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326710	NM_020428.4(SLC44A2):c.752T>C (p.Ile251Thr)	SLC44A2 (I251T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164828	NM_020428.4(SLC44A2):c.841A>G (p.Met281Val)	SLC44A2 (M279V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164829	NM_020428.4(SLC44A2):c.871G>A (p.Gly291Ser)	SLC44A2 (G291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164830	NM_020428.4(SLC44A2):c.916C>T (p.Arg306Trp)	SLC44A2 (R304W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164831	NM_020428.4(SLC44A2):c.935G>A (p.Arg312Gln)	SLC44A2 (R310Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777417	NM_020428.4(SLC44A2):c.1035A>G (p.Ala345=)	SLC44A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2327654	NM_020428.4(SLC44A2):c.1057G>A (p.Ala353Thr)	SLC44A2 (A353T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297962	NM_020428.4(SLC44A2):c.1072A>C (p.Met358Leu)	SLC44A2 (M356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777418	NM_020428.4(SLC44A2):c.1140C>T (p.Ser380=)	SLC44A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3239538	NM_020428.4(SLC44A2):c.1149-3C>T	SLC44A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2349874	NM_020428.4(SLC44A2):c.1214C>T (p.Ala405Val)	SLC44A2 (A403V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477650	NM_020428.4(SLC44A2):c.1235C>T (p.Thr412Ile)	SLC44A2 (T412I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319839	NM_020428.4(SLC44A2):c.1259G>A (p.Arg420His)	SLC44A2 (R418H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164819	NM_020428.4(SLC44A2):c.1271A>G (p.Asn424Ser)	SLC44A2 (N422S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282761	NM_020428.4(SLC44A2):c.1276C>T (p.Arg426Cys)	SLC44A2 (R426C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164820	NM_020428.4(SLC44A2):c.1312T>G (p.Tyr438Asp)	SLC44A2 (Y436D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164821	NM_020428.4(SLC44A2):c.1321G>T (p.Ala441Ser)	SLC44A2 (A439S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460428	NM_020428.4(SLC44A2):c.1505C>T (p.Thr502Ile)	SLC44A2 (T500I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388883	NM_020428.4(SLC44A2):c.1508G>C (p.Gly503Ala)	SLC44A2 (G503A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311924	NM_020428.4(SLC44A2):c.1533C>G (p.Ile511Met)	SLC44A2 (I511M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622998	NM_020428.4(SLC44A2):c.1554C>G (p.Ile518Met)	SLC44A2 (I518M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218901	NM_020428.4(SLC44A2):c.1637G>C (p.Cys546Ser)	SLC44A2 (C544S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649299	NM_020428.4(SLC44A2):c.1654G>C (p.Glu552Gln)	SLC44A2 (E550Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2213479	NM_020428.4(SLC44A2):c.1667A>T (p.Lys556Ile)	SLC44A2 (K556I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390493	NM_020428.4(SLC44A2):c.1724C>A (p.Thr575Asn)	SLC44A2 (T573N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396627	NM_020428.4(SLC44A2):c.1828G>A (p.Val610Ile)	SLC44A2 (V608I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231096	NM_020428.4(SLC44A2):c.1855T>C (p.Phe619Leu)	SLC44A2 (F619L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516380	NM_020428.4(SLC44A2):c.1898C>A (p.Pro633Gln)	SLC44A2 (P631Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208328	NM_020428.4(SLC44A2):c.1906A>G (p.Asn636Asp)	SLC44A2 (N636D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408748	NM_020428.4(SLC44A2):c.1939G>A (p.Val647Ile)	SLC44A2 (V645I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164823	NM_020428.4(SLC44A2):c.1975G>A (p.Val659Ile)	SLC44A2 (V657I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319840	NM_020428.4(SLC44A2):c.1981G>A (p.Gly661Ser)	SLC44A2 (G661S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164824	NM_020428.4(SLC44A2):c.2042C>T (p.Ser681Leu)	SLC44A2 (S681L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	CARM1, AP1M2 +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	AP1M2, ATG4D +10 more	Copy number gain	not provided	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 68