57572[geneid] - ClinVar - NCBI

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	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 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 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 1244507	NC_000019.10:g.11199195C>T	DOCK6	Single nucleotide variant	not provided	GBenign
Select item 1223545	NC_000019.10:g.11199277C>T	DOCK6	Single nucleotide variant	not provided	GLikely benign
Select item 1707391	NM_020812.4(DOCK6):c.*67G>A	DOCK6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 2100246	NM_020812.4(DOCK6):c.6138C>T (p.Asp2046=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032862	NM_020812.4(DOCK6):c.6128G>A (p.Arg2043Gln)	DOCK6 (R2078Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2090487	NM_020812.4(DOCK6):c.6111G>C (p.Leu2037Phe)	DOCK6 (L2037F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904196	NM_020812.4(DOCK6):c.6111G>T (p.Leu2037Phe)	DOCK6 (L2072F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2193226	NM_020812.4(DOCK6):c.6108_6110del (p.Leu2037del)	DOCK6 (L2072del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2532164	NM_020812.4(DOCK6):c.6109T>A (p.Leu2037Met)	DOCK6 (L2072M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2002783	NM_020812.4(DOCK6):c.6102-3C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815961	NM_020812.4(DOCK6):c.6102-5T>C	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722521	NM_020812.4(DOCK6):c.6102-10C>G	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192946	NM_020812.4(DOCK6):c.6102-173G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 433160	NC_000019.10:g.(?_11200038)_(11200291_?)del	DOCK6, LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1281337	NM_020812.4(DOCK6):c.6101+148G>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268615	NM_020812.4(DOCK6):c.6101+148del	DOCK6	Deletion (intron variant)	not provided	GBenign
Select item 1264914	NM_020812.4(DOCK6):c.6101+64G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945745	NM_020812.4(DOCK6):c.6101+18C>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006179	NM_020812.4(DOCK6):c.6101+15G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786839	NM_020812.4(DOCK6):c.6101+10C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313344	NM_020812.4(DOCK6):c.6099C>G (p.Leu2033=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 585145	NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)	DOCK6 (L2033F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728244	NM_020812.4(DOCK6):c.6093C>T (p.Pro2031=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975684	NM_020812.4(DOCK6):c.6086C>G (p.Thr2029Ser)	DOCK6 (T2029S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 1944528	NM_020812.4(DOCK6):c.6066G>C (p.Leu2022=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522754	NM_020812.4(DOCK6):c.6061C>T (p.Arg2021Cys)	DOCK6 (R2021C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981752	NM_020812.4(DOCK6):c.6056C>G (p.Thr2019Ser)	DOCK6 (T2019S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893562	NM_020812.4(DOCK6):c.6039T>C (p.Ala2013=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505984	NM_020812.4(DOCK6):c.6031C>T (p.Arg2011Trp)	DOCK6 (R2011W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982669	NM_020812.4(DOCK6):c.6014G>A (p.Arg2005His)	DOCK6 (R2005H +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2975326	NM_020812.4(DOCK6):c.6013C>T (p.Arg2005Cys)	DOCK6 (R2040C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914082	NM_020812.4(DOCK6):c.6012G>T (p.Glu2004Asp)	DOCK6 (E2039D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624158	NM_020812.4(DOCK6):c.6006G>A (p.Glu2002=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183265	NM_020812.4(DOCK6):c.6002G>A (p.Arg2001His)	DOCK6 (R2001H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895655	NM_020812.4(DOCK6):c.6001C>G (p.Arg2001Gly)	DOCK6 (R2001G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098760	NM_020812.4(DOCK6):c.5997C>A (p.Tyr1999Ter)	DOCK6 (Y1999* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1389495	NM_020812.4(DOCK6):c.5983G>A (p.Asp1995Asn)	DOCK6 (D1995N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380115	NM_020812.4(DOCK6):c.5982G>A (p.Pro1994=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375070	NM_020812.4(DOCK6):c.5977G>C (p.Gly1993Arg)	DOCK6 (G2028R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787602	NM_020812.4(DOCK6):c.5976T>A (p.Ile1992=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1530505	NM_020812.4(DOCK6):c.5958G>A (p.Arg1986=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304281	NM_020812.4(DOCK6):c.5956C>T (p.Arg1986Trp)	DOCK6 (R1986W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757522	NM_020812.4(DOCK6):c.5956C>A (p.Arg1986=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975754	NM_020812.4(DOCK6):c.5955G>A (p.Leu1985=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200632	NM_020812.4(DOCK6):c.5951C>T (p.Ala1984Val)	DOCK6 (A1984V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713539	NM_020812.4(DOCK6):c.5949T>C (p.Asp1983=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1927704	NM_020812.4(DOCK6):c.5940-9G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2957623	NM_020812.4(DOCK6):c.5940-18C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189653	NM_020812.4(DOCK6):c.5939+59C>G	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817178	NM_020812.4(DOCK6):c.5939+13C>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901709	NM_020812.4(DOCK6):c.5939+13C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561746	NM_020812.4(DOCK6):c.5939+12del	DOCK6	Deletion (intron variant)	not provided	GBenign
Select item 1948428	NM_020812.4(DOCK6):c.5939+10A>G	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896684	NM_020812.4(DOCK6):c.5939+7G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742326	NM_020812.4(DOCK6):c.5939+7G>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445617	NM_020812.4(DOCK6):c.5939+6C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1925964	NM_020812.4(DOCK6):c.5939+4G>C	DOCK6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253047	NM_020812.4(DOCK6):c.5939+2T>C	DOCK6	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2541083	NM_020812.4(DOCK6):c.5938A>G (p.Lys1980Glu)	DOCK6 (K2015E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959569	NM_020812.4(DOCK6):c.5932T>C (p.Cys1978Arg)	DOCK6 (C1978R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381250	NM_020812.4(DOCK6):c.5930T>G (p.Phe1977Cys)	DOCK6 (F1977C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997911	NM_020812.4(DOCK6):c.5912G>T (p.Arg1971Leu)	DOCK6 (R1971L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376925	NM_020812.4(DOCK6):c.5912G>A (p.Arg1971Gln)	DOCK6 (R2006Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2068104	NM_020812.4(DOCK6):c.5911C>T (p.Arg1971Trp)	DOCK6 (R1971W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2916714	NM_020812.4(DOCK6):c.5895G>T (p.Arg1965=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933391	NM_020812.4(DOCK6):c.5894G>A (p.Arg1965Gln)	DOCK6 (R2000Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713589	NM_020812.4(DOCK6):c.5892C>G (p.Phe1964Leu)	DOCK6 (F1964L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386958	NM_020812.4(DOCK6):c.5885A>G (p.Lys1962Arg)	DOCK6 (K1962R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 758813	NM_020812.4(DOCK6):c.5874G>A (p.Pro1958=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933755	NM_020812.4(DOCK6):c.5873C>G (p.Pro1958Arg)	DOCK6 (P1993R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2877616	NM_020812.4(DOCK6):c.5859T>C (p.Phe1953=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277692	NM_020812.4(DOCK6):c.5854G>T (p.Val1952Leu)	DOCK6 (V1952L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734770	NM_020812.4(DOCK6):c.5833-6C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908942	NM_020812.4(DOCK6):c.5833-11T>C	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991274	NM_020812.4(DOCK6):c.5833-16C>G	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045613	NM_020812.4(DOCK6):c.5833-17T>C	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845130	NM_020812.4(DOCK6):c.5832+19G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303926	NM_020812.4(DOCK6):c.5832+5G>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 798660	NM_020812.4(DOCK6):c.5832+4C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085086	NM_020812.4(DOCK6):c.5818C>G (p.Pro1940Ala)	DOCK6 (P1940A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198334	NM_020812.4(DOCK6):c.5812G>A (p.Val1938Ile)	DOCK6 (V1973I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065631	NM_020812.4(DOCK6):c.5790A>G (p.Leu1930=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1322760	NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs)	DOCK6 (K1928fs +1 more)	Microsatellite (frameshift variant)	Adams-Oliver syndrome 2 +1 more	GPathogenic
Select item 2538023	NM_020812.4(DOCK6):c.5774C>T (p.Pro1925Leu)	DOCK6 (P1960L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3000270	NM_020812.4(DOCK6):c.5771C>G (p.Pro1924Arg)	DOCK6 (P1924R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335924	NM_020812.4(DOCK6):c.5764C>T (p.Gln1922Ter)	DOCK6 (Q1922* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3085085	NM_020812.4(DOCK6):c.5741G>A (p.Arg1914Gln)	DOCK6 (R1914Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921165	NM_020812.4(DOCK6):c.5719G>A (p.Glu1907Lys)	DOCK6 (E1907K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058628	NM_020812.4(DOCK6):c.5718C>T (p.Ile1906=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866993	NM_020812.4(DOCK6):c.5712G>A (p.Val1904=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724123	NM_020812.4(DOCK6):c.5700G>A (p.Thr1900=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2054355	NM_020812.4(DOCK6):c.5689-2_5699del	DOCK6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1926873	NM_020812.4(DOCK6):c.5699C>T (p.Thr1900Met)	DOCK6 (T1935M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1938097	NM_020812.4(DOCK6):c.5691G>A (p.Thr1897=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 975217	NM_020812.4(DOCK6):c.5690C>T (p.Thr1897Met)	DOCK6 (T1897M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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