ClinVar for Gene (Select 8740) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327545	NM_001376887.1(TNFSF14):c.292C>G (p.Leu98Val)	TNFSF14 (L98V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327544	NM_001376887.1(TNFSF14):c.16G>C (p.Val6Leu)	TNFSF14 (V6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327543	NM_001376887.1(TNFSF14):c.506G>A (p.Arg169His)	TNFSF14 (R133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327541	NM_001376887.1(TNFSF14):c.583C>T (p.Arg195Trp)	TNFSF14 (R159W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327540	NM_001376887.1(TNFSF14):c.493G>A (p.Gly165Ser)	TNFSF14 (G129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327539	NM_001376887.1(TNFSF14):c.223G>A (p.Gly75Arg)	TNFSF14 (G75R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3180326	NM_001376887.1(TNFSF14):c.653G>A (p.Arg218His)	TNFSF14 (R182H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180325	NM_001376887.1(TNFSF14):c.44G>T (p.Gly15Val)	TNFSF14 (G15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180324	NM_001376887.1(TNFSF14):c.350A>G (p.Gln117Arg)	TNFSF14 (Q117R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180323	NM_001376887.1(TNFSF14):c.299G>A (p.Gly100Glu)	TNFSF14 (G100E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649142	NM_001376887.1(TNFSF14):c.11G>T (p.Ser4Ile)	TNFSF14 (S4I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2570209	NM_001376887.1(TNFSF14):c.92A>G (p.Gln31Arg)	LOC130063326, TNFSF14 (Q31R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2274763	NM_001376887.1(TNFSF14):c.319G>A (p.Gly107Ser)	TNFSF14 (G107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263627	NM_001376887.1(TNFSF14):c.229G>A (p.Ala77Thr)	TNFSF14 (A41T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255103	NM_001376887.1(TNFSF14):c.134T>C (p.Leu45Ser)	LOC130063326, TNFSF14 (L45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241580	NM_001376887.1(TNFSF14):c.565C>T (p.Arg189Trp)	TNFSF14 (R189W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237713	NM_001376887.1(TNFSF14):c.317C>T (p.Thr106Ile)	TNFSF14 (T106I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 777388	NM_001376887.1(TNFSF14):c.705C>T (p.Phe235=)	TNFSF14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746620	NM_001376887.1(TNFSF14):c.57C>T (p.Ile19=)	TNFSF14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740464	NM_001376887.1(TNFSF14):c.603C>T (p.Ser201=)	TNFSF14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	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 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32