ClinVar for Gene (Select 1609) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271759	NM_001347.4(DGKQ):c.2522G>A (p.Arg841His)	DGKQ (R841H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271758	NM_001347.4(DGKQ):c.77G>T (p.Ser26Ile)	DGKQ (S26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271757	NM_001347.4(DGKQ):c.686C>G (p.Ala229Gly)	DGKQ (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271756	NM_001347.4(DGKQ):c.1636G>A (p.Val546Ile)	DGKQ (V546I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271755	NM_001347.4(DGKQ):c.2101C>G (p.Leu701Val)	DGKQ (L701V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271754	NM_001347.4(DGKQ):c.1918C>T (p.Arg640Trp)	DGKQ (R640W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271753	NM_001347.4(DGKQ):c.1178C>A (p.Pro393Gln)	DGKQ (P393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271752	NM_001347.4(DGKQ):c.1295C>T (p.Pro432Leu)	DGKQ (P432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271751	NM_001347.4(DGKQ):c.713G>C (p.Arg238Pro)	DGKQ (R238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271750	NM_001347.4(DGKQ):c.1966G>A (p.Ala656Thr)	DGKQ (A656T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271748	NM_001347.4(DGKQ):c.116C>T (p.Pro39Leu)	DGKQ, LOC129991967 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271747	NM_001347.4(DGKQ):c.1669A>G (p.Met557Val)	DGKQ (M557V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271746	NM_001347.4(DGKQ):c.1624G>A (p.Val542Ile)	DGKQ (V542I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271745	NM_001347.4(DGKQ):c.1706T>C (p.Leu569Pro)	DGKQ (L569P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257705	NM_001347.4(DGKQ):c.2472G>A (p.Ser824=)	DGKQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246746	NC_000004.11:g.(?_818260)_(1020391_?)del	GAK, IDUA +5 more	Deletion	not provided	GUncertain significance
Select item 3081982	NM_001347.4(DGKQ):c.884C>A (p.Ser295Tyr)	DGKQ (S295Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081981	NM_001347.4(DGKQ):c.856G>T (p.Gly286Cys)	DGKQ (G286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081980	NM_001347.4(DGKQ):c.809C>G (p.Pro270Arg)	DGKQ (P270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081979	NM_001347.4(DGKQ):c.760G>A (p.Gly254Ser)	DGKQ (G254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081978	NM_001347.4(DGKQ):c.697G>A (p.Glu233Lys)	DGKQ (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081977	NM_001347.4(DGKQ):c.683C>T (p.Ala228Val)	DGKQ (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081976	NM_001347.4(DGKQ):c.448G>C (p.Glu150Gln)	DGKQ (E150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081975	NM_001347.4(DGKQ):c.2671G>A (p.Gly891Arg)	DGKQ (G891R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081974	NM_001347.4(DGKQ):c.2587G>A (p.Gly863Ser)	DGKQ (G863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081973	NM_001347.4(DGKQ):c.2572A>G (p.Met858Val)	DGKQ (M858V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081972	NM_001347.4(DGKQ):c.2563G>A (p.Val855Ile)	DGKQ (V855I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081971	NM_001347.4(DGKQ):c.2558C>T (p.Thr853Met)	DGKQ (T853M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081969	NM_001347.4(DGKQ):c.2255C>T (p.Ala752Val)	DGKQ (A752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081968	NM_001347.4(DGKQ):c.2206C>T (p.Pro736Ser)	DGKQ (P736S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081967	NM_001347.4(DGKQ):c.2069C>G (p.Ala690Gly)	DGKQ (A690G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081966	NM_001347.4(DGKQ):c.1699C>T (p.Arg567Trp)	DGKQ (R567W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081965	NM_001347.4(DGKQ):c.1657G>A (p.Glu553Lys)	DGKQ (E553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081964	NM_001347.4(DGKQ):c.1403T>C (p.Leu468Pro)	DGKQ (L468P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081963	NM_001347.4(DGKQ):c.1231G>T (p.Ala411Ser)	DGKQ (A411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081962	NM_001347.4(DGKQ):c.1228G>A (p.Val410Met)	DGKQ (V410M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081961	NM_001347.4(DGKQ):c.11C>T (p.Ala4Val)	DGKQ (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081960	NM_001347.4(DGKQ):c.1120G>T (p.Gly374Cys)	DGKQ (G374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062795	GRCh37/hg19 4p16.3(chr4:937611-1077542)x1	DGKQ, FGFRL1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3056660	NM_001347.4(DGKQ):c.633C>T (p.Ala211=)	DGKQ	Single nucleotide variant (synonymous variant)	DGKQ-related disorder	GBenign
Select item 3053600	NM_001347.4(DGKQ):c.1015C>A (p.Pro339Thr)	DGKQ (P339T)	Single nucleotide variant (missense variant)	DGKQ-related disorder	GLikely benign
Select item 3052604	NM_001347.4(DGKQ):c.2566G>A (p.Val856Met)	DGKQ (V856M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3050114	NM_001347.4(DGKQ):c.1734+10C>T	DGKQ	Single nucleotide variant (intron variant)	DGKQ-related disorder	GLikely benign
Select item 3050037	NM_001347.4(DGKQ):c.2575-7G>A	DGKQ	Single nucleotide variant (intron variant)	DGKQ-related disorder	GLikely benign
Select item 3046878	NM_001347.4(DGKQ):c.538-10C>T	DGKQ	Single nucleotide variant (intron variant)	DGKQ-related disorder	GLikely benign
Select item 3046447	NM_001347.4(DGKQ):c.1884C>T (p.Pro628=)	DGKQ	Single nucleotide variant (synonymous variant)	DGKQ-related disorder	GLikely benign
Select item 3045545	NM_001347.4(DGKQ):c.609G>C (p.Thr203=)	DGKQ	Single nucleotide variant (synonymous variant)	DGKQ-related disorder	GLikely benign
Select item 3044052	NM_001347.4(DGKQ):c.719G>A (p.Arg240His)	DGKQ (R240H)	Single nucleotide variant (missense variant)	DGKQ-related disorder	GLikely benign
Select item 3043989	NM_001347.4(DGKQ):c.1886+10G>T	DGKQ	Single nucleotide variant (intron variant)	DGKQ-related disorder	GLikely benign
Select item 3042093	NM_001347.4(DGKQ):c.592G>C (p.Glu198Gln)	DGKQ (E198Q)	Single nucleotide variant (missense variant)	DGKQ-related disorder	GLikely benign
Select item 3041681	NM_001347.4(DGKQ):c.447C>T (p.Cys149=)	DGKQ	Single nucleotide variant (synonymous variant)	DGKQ-related disorder	GLikely benign
Select item 3041208	NM_001347.4(DGKQ):c.1619-4G>A	DGKQ	Single nucleotide variant (intron variant)	DGKQ-related disorder	GLikely benign
Select item 3038607	NM_001347.4(DGKQ):c.2574+8G>C	DGKQ	Single nucleotide variant (intron variant)	DGKQ-related disorder	GLikely benign
Select item 3033599	NM_001347.4(DGKQ):c.2637C>A (p.Val879=)	DGKQ	Single nucleotide variant (synonymous variant)	DGKQ-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MAEA, MAN2B2 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2655235	GRCh37/hg19 4p16.3(chr4:619416-1107252)x3	ATP5ME, CPLX1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2654534	NM_001347.4(DGKQ):c.1524C>T (p.Pro508=)	DGKQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654533	NM_001347.4(DGKQ):c.2127C>T (p.Ala709=)	DGKQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616167	NM_001347.4(DGKQ):c.1858G>A (p.Asp620Asn)	DGKQ (D620N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611494	NM_001347.4(DGKQ):c.637G>A (p.Val213Met)	DGKQ (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605910	NM_001347.4(DGKQ):c.817G>A (p.Gly273Arg)	DGKQ (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604719	NM_001347.4(DGKQ):c.1424G>A (p.Arg475Gln)	DGKQ (R475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603209	NM_001347.4(DGKQ):c.1777G>A (p.Val593Met)	DGKQ (V593M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ADRA2C, AFAP1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2562311	NM_001347.4(DGKQ):c.961C>T (p.Arg321Cys)	DGKQ (R321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556857	NM_001347.4(DGKQ):c.1135T>C (p.Ser379Pro)	DGKQ (S379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550030	NM_001347.4(DGKQ):c.1324G>C (p.Glu442Gln)	DGKQ (E442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544839	NM_001347.4(DGKQ):c.1243G>C (p.Val415Leu)	DGKQ (V415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528242	NM_001347.4(DGKQ):c.1889T>C (p.Leu630Pro)	DGKQ (L630P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528158	NM_001347.4(DGKQ):c.2234A>G (p.Tyr745Cys)	DGKQ (Y745C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518863	NM_001347.4(DGKQ):c.2629T>C (p.Phe877Leu)	DGKQ (F877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514033	NM_001347.4(DGKQ):c.1490C>T (p.Pro497Leu)	DGKQ (P497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508583	NM_001347.4(DGKQ):c.1526G>A (p.Gly509Asp)	DGKQ (G509D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503101	NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)	DGKQ, LOC129991967 (T67M)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance
Select item 2488397	NM_001347.4(DGKQ):c.1310A>C (p.Gln437Pro)	DGKQ (Q437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485836	NM_001347.4(DGKQ):c.490G>A (p.Ala164Thr)	DGKQ (A164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465344	NM_001347.4(DGKQ):c.1475G>A (p.Ser492Asn)	DGKQ (S492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465035	NM_001347.4(DGKQ):c.1843C>T (p.Pro615Ser)	DGKQ (P615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2423740	NC_000004.11:g.(?_520808)_(1020391_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 2404673	NM_001347.4(DGKQ):c.1700G>A (p.Arg567Gln)	DGKQ (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404244	NM_001347.4(DGKQ):c.2366A>G (p.His789Arg)	DGKQ (H789R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400670	NM_001347.4(DGKQ):c.85C>G (p.Leu29Val)	DGKQ (L29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396254	NM_001347.4(DGKQ):c.70G>T (p.Ala24Ser)	DGKQ (A24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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