14988[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 1278370	NM_015352.2(POFUT1):c.-24G>A	POFUT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1179440	NM_015352.2(POFUT1):c.-16G>C	POFUT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 2720360	NM_015352.2(POFUT1):c.24G>A (p.Arg8=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
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 683580	NM_015352.2(POFUT1):c.75T>C (p.Pro25=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2 +2 more	GBenign
Select item 570946	NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu)	POFUT1 (D30E)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2	GUncertain significance
Select item 1707140	NM_015352.2(POFUT1):c.124+235T>G	POFUT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244677	NM_015352.2(POFUT1):c.124+235T>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 2025801	NM_015352.2(POFUT1):c.125-20C>G	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GLikely benign
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 1157507	NM_015352.2(POFUT1):c.144C>T (p.Ala48=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	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 760405	NM_015352.2(POFUT1):c.147T>C (p.Asp49=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GBenign
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 2409829	NM_015352.2(POFUT1):c.227A>G (p.His76Arg)	POFUT1 (H76R)	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 1096718	NM_015352.2(POFUT1):c.234T>G (p.Pro78=)	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 2581895	NM_015352.2(POFUT1):c.246+4A>T	POFUT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1250670	NM_015352.2(POFUT1):c.247-161C>T	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
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 574378	NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter)	POFUT1 (Q97*)	Single nucleotide variant (nonsense)	Dowling-Degos disease 2	GPathogenic
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 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 2083559	NM_015352.2(POFUT1):c.372A>T (p.Ala124=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
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 2636247	NM_015352.2(POFUT1):c.397C>T (p.Arg133Ter)	POFUT1 (R133*)	Single nucleotide variant (nonsense)	POFUT1-related disorder	GPathogenic
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 1309510	NM_015352.2(POFUT1):c.425T>C (p.Met142Thr)	POFUT1 (M142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910900	NM_015352.2(POFUT1):c.429+14del	POFUT1	Deletion (intron variant)	Dowling-Degos disease 2	GLikely benign
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 2857432	NM_015352.2(POFUT1):c.429+17C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1286669	NM_015352.2(POFUT1):c.429+79T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 56808	NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter)	POFUT1 (E144*)	Single nucleotide variant (nonsense)	Dowling-Degos disease 2	GPathogenic
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 56809	NM_015352.2(POFUT1):c.482del (p.Lys161fs)	POFUT1 (K161fs)	Deletion (frameshift variant)	Dowling-Degos disease 2	GPathogenic
Select item 1543816	NM_015352.2(POFUT1):c.542+10G>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	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 445499	NM_015352.2(POFUT1):c.542+11G>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2 +1 more	GBenign/Likely benign
Select item 1647753	NM_015352.2(POFUT1):c.542+15T>C	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	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 1707381	NM_015352.2(POFUT1):c.542+180G>A	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 1693397	NM_015352.2(POFUT1):c.560A>G (p.His187Arg)	POFUT1 (H187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2528123	NM_015352.2(POFUT1):c.565G>A (p.Val189Met)	POFUT1 (V189M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474295	NM_015352.2(POFUT1):c.588A>G (p.Pro196=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2 +1 more	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 1975962	NM_015352.2(POFUT1):c.624A>G (p.Leu208=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
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 2523999	NM_015352.2(POFUT1):c.649G>A (p.Glu217Lys)	POFUT1 (E217K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 1657624	NM_015352.2(POFUT1):c.735+11C>A	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1187866	NM_015352.2(POFUT1):c.735+119C>T	POFUT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281890	NM_015352.2(POFUT1):c.735+173A>G	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 1548923	NM_015352.2(POFUT1):c.736-13C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1554589	NM_015352.2(POFUT1):c.736-12C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 1601343	NM_015352.2(POFUT1):c.736-11G>A	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	GBenign
Select item 759691	NM_015352.2(POFUT1):c.736-5C>T	POFUT1	Single nucleotide variant (intron variant)	Dowling-Degos disease 2	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 719060	NM_015352.2(POFUT1):c.751A>G (p.Met251Val)	POFUT1 (M251V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely 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 2386649	NM_015352.2(POFUT1):c.763G>A (p.Gly255Arg)	POFUT1 (G255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2530440	NM_015352.2(POFUT1):c.824C>T (p.Ala275Val)	POFUT1 (A275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1533470	NM_015352.2(POFUT1):c.836C>T (p.Thr279Met)	POFUT1 (T279M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2222694	NM_015352.2(POFUT1):c.862A>C (p.Lys288Gln)	POFUT1 (K288Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1169451	NM_015352.2(POFUT1):c.867G>A (p.Glu289=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GBenign
Select item 1344696	NM_015352.2(POFUT1):c.889_890del (p.Trp297fs)	POFUT1 (W297fs)	Deletion (frameshift variant)	Dowling-Degos disease 2	GPathogenic
Select item 710154	NM_015352.2(POFUT1):c.900G>A (p.Ser300=)	POFUT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 774965	NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys)	POFUT1 (E313K)	Single nucleotide variant (missense variant)	POFUT1-related disorder +1 more	GBenign/Likely benign
Select item 474296	NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe)	POFUT1 (L322F)	Single nucleotide variant (missense variant)	Dowling-Degos disease 2 +1 more	GBenign
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 2574364	NM_015352.2(POFUT1):c.978+54_978+119del	POFUT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1230748	NM_015352.2(POFUT1):c.978+178T>C	POFUT1	Single nucleotide variant (intron variant)	not provided	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 1560693	NM_015352.2(POFUT1):c.1032C>T (p.Leu344=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign
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 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 3038614	NM_015352.2(POFUT1):c.1056C>G (p.Gly352=)	POFUT1	Single nucleotide variant (synonymous variant)	POFUT1-related disorder	GLikely benign
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 2369677	NM_015352.2(POFUT1):c.1097G>A (p.Arg366Gln)	POFUT1 (R366Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1642667	NM_015352.2(POFUT1):c.1128C>T (p.Phe376=)	POFUT1	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 2	GLikely benign

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