6038[HGNC] - ClinVar

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Search results

Items: 61

	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 2539690	NM_017620.3(ILF3):c.34C>T (p.Arg12Cys)	ILF3 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545988	NM_017620.3(ILF3):c.44T>C (p.Met15Thr)	ILF3 (M15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649300	NM_017620.3(ILF3):c.72A>C (p.Thr24=)	ILF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317552	NM_017620.3(ILF3):c.224A>G (p.Glu75Gly)	ILF3 (E75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379438	NM_017620.3(ILF3):c.245C>T (p.Thr82Met)	ILF3 (T82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109494	NM_017620.3(ILF3):c.333G>T (p.Glu111Asp)	ILF3 (E111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402959	NM_017620.3(ILF3):c.400A>G (p.Ile134Val)	ILF3 (I134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109495	NM_017620.3(ILF3):c.418A>G (p.Thr140Ala)	ILF3 (T140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109496	NM_017620.3(ILF3):c.443A>C (p.Gln148Pro)	ILF3 (Q148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285925	NM_017620.3(ILF3):c.575A>C (p.Asn192Thr)	ILF3 (N192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285926	NM_017620.3(ILF3):c.580C>T (p.Pro194Ser)	ILF3 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109497	NM_017620.3(ILF3):c.730G>C (p.Gly244Arg)	ILF3 (G244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109489	NM_017620.3(ILF3):c.1012C>T (p.Pro338Ser)	ILF3 (P338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993531	NM_017620.3(ILF3):c.1070-15G>A	ILF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2310390	NM_017620.3(ILF3):c.1132G>A (p.Gly378Arg)	ILF3 (G378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109490	NM_017620.3(ILF3):c.1189G>T (p.Ala397Ser)	ILF3 (A397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109491	NM_017620.3(ILF3):c.1222C>T (p.Arg408Trp)	ILF3 (R408W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225853	NM_017620.3(ILF3):c.1375G>A (p.Val459Ile)	ILF3 (V459I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233756	NM_017620.3(ILF3):c.1402C>G (p.Pro468Ala)	ILF3 (P468A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475061	NM_017620.3(ILF3):c.1430G>A (p.Ser477Asn)	ILF3 (S477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393966	NM_017620.3(ILF3):c.1462G>A (p.Ala488Thr)	ILF3 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375599	NM_017620.3(ILF3):c.1481C>T (p.Ala494Val)	ILF3 (A494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399062	NM_017620.3(ILF3):c.1520C>T (p.Ala507Val)	ILF3 (A507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285928	NM_017620.3(ILF3):c.1678G>A (p.Val560Ile)	ILF3 (V556I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298414	NM_017620.3(ILF3):c.1795G>T (p.Ala599Ser)	ILF3 (A595S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324087	NM_017620.3(ILF3):c.1891G>A (p.Gly631Ser)	ILF3 (G631S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781442	NM_017620.3(ILF3):c.1965A>G (p.Arg655=)	ILF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2336907	NM_017620.3(ILF3):c.2044G>A (p.Gly682Arg)	ILF3 (G678R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285927	NM_017620.3(ILF3):c.2066G>A (p.Gly689Asp)	ILF3 (G685D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239285	NM_017620.3(ILF3):c.2146G>A (p.Gly716Ser)	ILF3 (G712S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285930	NM_017620.3(ILF3):c.2192C>T (p.Pro731Leu)	ILF3 (P727L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272698	NM_017620.3(ILF3):c.2203G>A (p.Ala735Thr)	ILF3 (A731T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285924	NM_017620.3(ILF3):c.2252C>T (p.Ser751Leu)	ILF3 (S747L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109492	NM_017620.3(ILF3):c.2324A>T (p.Gln775Leu)	ILF3 (Q775L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109493	NM_017620.3(ILF3):c.2398G>A (p.Gly800Arg)	ILF3 (G796R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491204	NM_017620.3(ILF3):c.2435A>G (p.Asn812Ser)	ILF3 (N687S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520728	NM_017620.3(ILF3):c.2461G>A (p.Gly821Ser)	ILF3 (G821S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2204043	NM_017620.3(ILF3):c.2539G>A (p.Gly847Ser)	ILF3 (G726S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320584	NM_017620.3(ILF3):c.2635C>G (p.Gln879Glu)	ILF3 (Q754E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285931	NM_017620.3(ILF3):c.2680A>T (p.Asn894Tyr)	ILF3 (N769Y +5 more)	Single nucleotide variant (missense variant)	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: 61