WDPCP[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 723

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 898767	NM_015910.7(WDPCP):c.*634A>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 369345	NM_015910.7(WDPCP):c.624_625del	WDPCP	Deletion (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GBenign
Select item 336748	NM_015910.7(WDPCP):c.604_605del	WDPCP	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 336749	NM_015910.7(WDPCP):c.*586AG[2]	WDPCP	Microsatellite (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 336750	NM_015910.7(WDPCP):c.*582C>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 895793	NM_015910.7(WDPCP):c.*559G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336751	NM_015910.7(WDPCP):c.*541C>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336752	NM_015910.7(WDPCP):c.*446C>T	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 895794	NM_015910.7(WDPCP):c.*327G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GLikely benign
Select item 336753	NM_015910.7(WDPCP):c.*323A>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GBenign
Select item 336754	NM_015910.7(WDPCP):c.*195G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GBenign
Select item 336755	NM_015910.7(WDPCP):c.*138GTTT[1]	WDPCP	Microsatellite (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 336756	NM_015910.7(WDPCP):c.*104A>C	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 3358454	NM_015910.7(WDPCP):c.*5T>C	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	WDPCP-related disorder	GLikely benign
Select item 3349208	NM_015910.7(WDPCP):c.2236G>T (p.Val746Leu)	WDPCP (V587L +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 2030948	NM_015910.7(WDPCP):c.2235G>A (p.Leu745=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 970696	NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser)	WDPCP (G585S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 895795	NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)	WDPCP (K739R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 1110485	NM_015910.7(WDPCP):c.2211T>C (p.Ser737=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1497369	NM_015910.7(WDPCP):c.2210C>A (p.Ser737Tyr)	WDPCP (S578Y +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 844290	NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val)	WDPCP (E572V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 704578	NM_015910.7(WDPCP):c.2191-4G>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2780843	NM_015910.7(WDPCP):c.2190+15C>A	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3346026	NM_015910.7(WDPCP):c.2190+10T>C	WDPCP	Single nucleotide variant (intron variant)	WDPCP-related disorder	GUncertain significance
Select item 1586490	NM_015910.7(WDPCP):c.2190+8A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1448082	NM_015910.7(WDPCP):c.2190+1G>A	WDPCP	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 3346469	NM_015910.7(WDPCP):c.2188C>A (p.Gln730Lys)	WDPCP (Q571K +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 336757	NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser)	WDPCP (G727S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1107209	NM_015910.7(WDPCP):c.2178C>T (p.Asp726=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1402688	NM_015910.7(WDPCP):c.2173G>A (p.Glu725Lys)	WDPCP (E566K +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1976647	NM_015910.7(WDPCP):c.2171G>C (p.Arg724Thr)	WDPCP (R724T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2650993	NM_015910.7(WDPCP):c.2169G>A (p.Leu723=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 336758	NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1450094	NM_015910.7(WDPCP):c.2161G>A (p.Gly721Arg)	WDPCP (G562R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1138927	NM_015910.7(WDPCP):c.2160C>T (p.Asp720=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 336759	NM_015910.7(WDPCP):c.2159-13T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1498206	NM_015910.7(WDPCP):c.2159-14A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3008496	NM_015910.7(WDPCP):c.2159-20G>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2172981	NM_015910.7(WDPCP):c.2158+14A>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 896080	NM_015910.7(WDPCP):c.2158+14A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 3357428	NM_015910.7(WDPCP):c.2158+5T>C	WDPCP	Single nucleotide variant (intron variant)	WDPCP-related disorder	GLikely benign
Select item 1436033	NM_015910.7(WDPCP):c.2149A>C (p.Asn717His)	WDPCP (N558H +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1347281	NM_015910.7(WDPCP):c.2147G>A (p.Cys716Tyr)	WDPCP (C692Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1609666	NM_015910.7(WDPCP):c.2142T>C (p.Asn714=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 3354693	NM_015910.7(WDPCP):c.2135T>C (p.Met712Thr)	WDPCP (M553T +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 2547085	NM_015910.7(WDPCP):c.2128T>C (p.Phe710Leu)	WDPCP (F551L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1489322	NM_015910.7(WDPCP):c.2125G>A (p.Gly709Arg)	WDPCP (G550R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1041289	NM_015910.7(WDPCP):c.2123C>A (p.Ser708Tyr)	WDPCP (S549Y +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 336760	NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr)	WDPCP (D705Y +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2116993	NM_015910.7(WDPCP):c.2107G>C (p.Glu703Gln)	WDPCP (E679Q +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2106706	NM_015910.7(WDPCP):c.2106T>G (p.Leu702=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2142268	NM_015910.7(WDPCP):c.2102A>C (p.Glu701Ala)	WDPCP (E677A +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2584976	NM_015910.7(WDPCP):c.2101G>T (p.Glu701Ter)	WDPCP (E542* +2 more)	Single nucleotide variant (nonsense +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GLikely pathogenic
Select item 1596862	NM_015910.7(WDPCP):c.2100T>C (p.Asn700=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1713716	NM_015910.7(WDPCP):c.2089G>C (p.Asp697His)	WDPCP (D538H +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 3043097	NM_015910.7(WDPCP):c.2088T>C (p.Ile696=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	WDPCP-related disorder	GLikely benign
Select item 1418053	NM_015910.7(WDPCP):c.2087T>C (p.Ile696Thr)	WDPCP (I537T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2194352	NM_015910.7(WDPCP):c.2083A>G (p.Ile695Val)	WDPCP (I536V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1990101	NM_015910.7(WDPCP):c.2079-3C>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1155140	NM_015910.7(WDPCP):c.2079-8T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1607576	NM_015910.7(WDPCP):c.2078+19A>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2055380	NM_015910.7(WDPCP):c.2078+18G>A	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1627630	NM_015910.7(WDPCP):c.2078+13G>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2116043	NM_015910.7(WDPCP):c.2078+8A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 917967	NM_015910.7(WDPCP):c.2078+1G>T	WDPCP	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 15	GPathogenic
Select item 2142126	NM_015910.7(WDPCP):c.2078G>T (p.Arg693Ile)	WDPCP (R693I +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2240187	NM_015910.7(WDPCP):c.2068T>C (p.Ser690Pro)	WDPCP (S531P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 220870	NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)	WDPCP (N688S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +4 more	GBenign/Likely benign
Select item 3062312	NM_015910.7(WDPCP):c.2050_2053del (p.Gln684fs)	WDPCP (Q525fs +2 more)	Deletion (frameshift variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GLikely pathogenic
Select item 2203489	NM_015910.7(WDPCP):c.2051A>G (p.Gln684Arg)	WDPCP (Q525R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1461924	NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys)	WDPCP (Q659K +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 2739251	NM_015910.7(WDPCP):c.2031C>A (p.Thr677=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2181450	NM_015910.7(WDPCP):c.2017C>T (p.Pro673Ser)	WDPCP (P649S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1390037	NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys)	WDPCP (N646K +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1499461	NM_015910.7(WDPCP):c.2003C>T (p.Pro668Leu)	WDPCP (P644L +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1990522	NM_015910.7(WDPCP):c.2001T>G (p.Phe667Leu)	WDPCP (F643L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3344375	NM_015910.7(WDPCP):c.1991A>G (p.Glu664Gly)	WDPCP (E505G +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 2173892	NM_015910.7(WDPCP):c.1991A>T (p.Glu664Val)	WDPCP (E505V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1004710	NM_015910.7(WDPCP):c.1982C>T (p.Pro661Leu)	WDPCP (P502L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3358256	NM_015910.7(WDPCP):c.1981C>T (p.Pro661Ser)	WDPCP (P502S +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 2099781	NM_015910.7(WDPCP):c.1971G>C (p.Leu657=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2840550	NM_015910.7(WDPCP):c.1970T>C (p.Leu657Pro)	WDPCP (L657P +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1574011	NM_015910.7(WDPCP):c.1968C>G (p.Gly656=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3048745	NM_015910.7(WDPCP):c.1950_1952del (p.Asn651del)	WDPCP (N492del +2 more)	Deletion (non-coding transcript variant)	WDPCP-related disorder	GUncertain significance
Select item 860723	NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)	WDPCP (N627H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 336761	NM_015910.7(WDPCP):c.1945A>G (p.Met649Val)	WDPCP (M649V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2109827	NM_015910.7(WDPCP):c.1942G>T (p.Asp648Tyr)	WDPCP (D489Y +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1647065	NM_015910.7(WDPCP):c.1941G>A (p.Gly647=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GLikely benign
Select item 3354709	NM_015910.7(WDPCP):c.1928C>T (p.Pro643Leu)	WDPCP (P484L +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 3345303	NM_015910.7(WDPCP):c.1924G>C (p.Gly642Arg)	WDPCP (G483R +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder	GUncertain significance
Select item 336762	NM_015910.7(WDPCP):c.1923G>A (p.Leu641=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 1042887	NM_015910.7(WDPCP):c.1922T>G (p.Leu641Arg)	WDPCP (L482R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 591518	NM_015910.7(WDPCP):c.1916-2A>G	WDPCP	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1427002	NM_015910.7(WDPCP):c.1916-4A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 260680	NM_015910.7(WDPCP):c.1916-6C>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign
Select item 1625815	NM_015910.7(WDPCP):c.1916-14A>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

<< First< Prev

Page of 8