ClinVar for Gene (Select 23509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308238	NM_015352.2(POFUT1):c.923T>A (p.Val308Asp)	POFUT1 (V308D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308237	NM_015352.2(POFUT1):c.769G>A (p.Ala257Thr)	POFUT1 (A257T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308236	NM_015352.2(POFUT1):c.259T>C (p.Tyr87His)	POFUT1 (Y87H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308235	NM_015352.2(POFUT1):c.827C>T (p.Ala276Val)	POFUT1 (A276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252625	NM_015352.2(POFUT1):c.203C>G (p.Pro68Arg)	POFUT1 (P68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252104	NM_015352.2(POFUT1):c.246+5del	POFUT1	Deletion (intron variant)	Dowling-Degos disease 2	GPathogenic
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3216213	NM_015352.2(POFUT1):c.914C>T (p.Ser305Leu)	POFUT1 (S305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216212	NM_015352.2(POFUT1):c.1129G>A (p.Gly377Ser)	POFUT1 (G377S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 3046765	NM_015352.2(POFUT1):c.825G>A (p.Ala275=)	POFUT1	Single nucleotide variant (synonymous variant)	POFUT1-related disorder	GLikely benign
Select item 3038614	NM_015352.2(POFUT1):c.1056C>G (p.Gly352=)	POFUT1	Single nucleotide variant (synonymous variant)	POFUT1-related disorder	GLikely benign
Select item 3034722	NM_015352.2(POFUT1):c.762C>T (p.Asp254=)	POFUT1	Single nucleotide variant (synonymous variant)	POFUT1-related disorder	GLikely benign
Select item 3015660	NM_015352.2(POFUT1):c.480C>A (p.Asn160Lys)	POFUT1 (N160K)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2976526	NM_015352.2(POFUT1):c.719G>A (p.Arg240His)	POFUT1 (R240H)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2971519	NM_015352.2(POFUT1):c.429+13G>A	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2910900	NM_015352.2(POFUT1):c.429+14del	POFUT1	Deletion (intron variant)	Dowling-Degos disease 2	GLikely benign
Select item 2894128	NM_015352.2(POFUT1):c.247-7C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GLikely benign
Select item 2870892	NM_015352.2(POFUT1):c.971A>G (p.Lys324Arg)	POFUT1 (K324R)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2857432	NM_015352.2(POFUT1):c.429+17C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2 +1 more	GBenign
Select item 2795389	NM_015352.2(POFUT1):c.1019A>G (p.Asp340Gly)	POFUT1 (D340G)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2722718	NM_015352.2(POFUT1):c.1091G>A (p.Arg364Gln)	POFUT1 (R364Q)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2720360	NM_015352.2(POFUT1):c.24G>A (p.Arg8=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 2716879	NM_015352.2(POFUT1):c.188G>A (p.Arg63His)	POFUT1 (R63H)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2684904	GRCh37/hg19 20q11.21(chr20:30582924-30860287)x3	CCM2L, HCK +4 more	Copy number gain	not provided	GUncertain significance
Select item 2636247	NM_015352.2(POFUT1):c.397C>T (p.Arg133Ter)	POFUT1 (R133*)	Single nucleotide variant (nonsense)	POFUT1-related disorder	GPathogenic
Select item 2581895	NM_015352.2(POFUT1):c.246+4A>T	POFUT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2574364	NM_015352.2(POFUT1):c.978+54_978+119del	POFUT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2560458	NM_015352.2(POFUT1):c.145G>A (p.Asp49Asn)	POFUT1 (D49N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530440	NM_015352.2(POFUT1):c.824C>T (p.Ala275Val)	POFUT1 (A275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528123	NM_015352.2(POFUT1):c.565G>A (p.Val189Met)	POFUT1 (V189M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523999	NM_015352.2(POFUT1):c.649G>A (p.Glu217Lys)	POFUT1 (E217K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499912	NM_015352.2(POFUT1):c.232C>T (p.Pro78Ser)	POFUT1 (P78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409829	NM_015352.2(POFUT1):c.227A>G (p.His76Arg)	POFUT1 (H76R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2386649	NM_015352.2(POFUT1):c.763G>A (p.Gly255Arg)	POFUT1 (G255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369677	NM_015352.2(POFUT1):c.1097G>A (p.Arg366Gln)	POFUT1 (R366Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369285	NM_015352.2(POFUT1):c.70A>T (p.Met24Leu)	POFUT1 (M24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2287074	NM_015352.2(POFUT1):c.310A>G (p.Ser104Gly)	POFUT1 (S104G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222694	NM_015352.2(POFUT1):c.862A>C (p.Lys288Gln)	POFUT1 (K288Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188087	NM_015352.2(POFUT1):c.694C>T (p.Arg232Trp)	POFUT1 (R232W)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2185758	NM_015352.2(POFUT1):c.1116G>A (p.Pro372=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 2143148	NM_015352.2(POFUT1):c.21A>G (p.Ala7=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 2142663	NM_015352.2(POFUT1):c.698C>T (p.Pro233Leu)	POFUT1 (P233L)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 2083559	NM_015352.2(POFUT1):c.372A>T (p.Ala124=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 2068243	NM_015352.2(POFUT1):c.564G>A (p.Pro188=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 2025801	NM_015352.2(POFUT1):c.125-20C>G	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GLikely benign
Select item 1988381	NM_015352.2(POFUT1):c.837G>A (p.Thr279=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1984968	NM_015352.2(POFUT1):c.245A>C (p.Asn82Thr)	POFUT1 (N82T)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1975962	NM_015352.2(POFUT1):c.624A>G (p.Leu208=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1716975	NM_015352.2(POFUT1):c.394C>G (p.Gln132Glu)	POFUT1 (Q132E)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1707381	NM_015352.2(POFUT1):c.542+180G>A	POFUT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707140	NM_015352.2(POFUT1):c.124+235T>G	POFUT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707126	NM_015352.2(POFUT1):c.542+432del	POFUT1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1706674	NM_015352.2(POFUT1):c.*161G>A	POFUT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1693397	NM_015352.2(POFUT1):c.560A>G (p.His187Arg)	POFUT1 (H187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657624	NM_015352.2(POFUT1):c.735+11C>A	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1647753	NM_015352.2(POFUT1):c.542+15T>C	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2 +1 more	GBenign
Select item 1642667	NM_015352.2(POFUT1):c.1128C>T (p.Phe376=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1601343	NM_015352.2(POFUT1):c.736-11G>A	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1592932	NM_015352.2(POFUT1):c.1042G>A (p.Asp348Asn)	POFUT1 (D348N)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2 +1 more	GBenign
Select item 1568454	NM_015352.2(POFUT1):c.542+19G>A	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GLikely benign
Select item 1560693	NM_015352.2(POFUT1):c.1032C>T (p.Leu344=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1554589	NM_015352.2(POFUT1):c.736-12C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1548923	NM_015352.2(POFUT1):c.736-13C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1543816	NM_015352.2(POFUT1):c.542+10G>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1536532	NM_015352.2(POFUT1):c.600C>T (p.Pro200=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1533470	NM_015352.2(POFUT1):c.836C>T (p.Thr279Met)	POFUT1 (T279M)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1492767	NM_015352.2(POFUT1):c.1036C>G (p.Gln346Glu)	POFUT1 (Q346E)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1461585	NM_015352.2(POFUT1):c.671C>A (p.Ala224Asp)	POFUT1 (A224D)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1421678	NM_015352.2(POFUT1):c.125-15A>G	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GLikely benign
Select item 1370881	NM_015352.2(POFUT1):c.814C>T (p.Arg272Cys)	POFUT1 (R272C)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1344696	NM_015352.2(POFUT1):c.889_890del (p.Trp297fs)	POFUT1 (W297fs)	Deletion (frameshift variant)	Dowling-Degos disease 2	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1312213	NM_015352.2(POFUT1):c.776C>T (p.Ser259Leu)	POFUT1 (S259L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309510	NM_015352.2(POFUT1):c.425T>C (p.Met142Thr)	POFUT1 (M142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286669	NM_015352.2(POFUT1):c.429+79T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281890	NM_015352.2(POFUT1):c.735+173A>G	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278370	NM_015352.2(POFUT1):c.-24G>A	POFUT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1250670	NM_015352.2(POFUT1):c.247-161C>T	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244937	NM_015352.2(POFUT1):c.735+198T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244677	NM_015352.2(POFUT1):c.124+235T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239010	NM_015352.2(POFUT1):c.*99A>G	POFUT1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1230748	NM_015352.2(POFUT1):c.978+178T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225293	NM_015352.2(POFUT1):c.125-246T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187866	NM_015352.2(POFUT1):c.735+119C>T	POFUT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179440	NM_015352.2(POFUT1):c.-16G>C	POFUT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1170434	NM_015352.2(POFUT1):c.542+11G>C	POFUT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1169451	NM_015352.2(POFUT1):c.867G>A (p.Glu289=)	POFUT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1165427	NM_015352.2(POFUT1):c.741C>T (p.Asn247=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GBenign
Select item 1157507	NM_015352.2(POFUT1):c.144C>T (p.Ala48=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1125214	NM_015352.2(POFUT1):c.365G>A (p.Arg122Gln)	POFUT1 (R122Q)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GLikely benign
Select item 1096718	NM_015352.2(POFUT1):c.234T>G (p.Pro78=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
Select item 1058589	NM_015352.2(POFUT1):c.416C>T (p.Thr139Met)	POFUT1 (T139M)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1046967	NM_015352.2(POFUT1):c.784A>G (p.Met262Val)	POFUT1 (M262V)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 940614	NM_015352.2(POFUT1):c.637G>C (p.Val213Leu)	POFUT1 (V213L)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 832109	NC_000020.10:g.(?_30795725)_(31395729_?)dup	ASXL1, C20orf203 +5 more	Duplication	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance

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