ClinVar for Gene (Select 22856) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267265	NM_014918.5(CHSY1):c.1003C>A (p.His335Asn)	CHSY1 (H335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267264	NM_014918.5(CHSY1):c.1469C>T (p.Ala490Val)	CHSY1 (A490V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267263	NM_014918.5(CHSY1):c.2405C>T (p.Ala802Val)	CHSY1 (A802V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267262	NM_014918.5(CHSY1):c.1555C>G (p.Leu519Val)	CHSY1 (L519V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267261	NM_014918.5(CHSY1):c.1086C>G (p.Phe362Leu)	CHSY1 (F362L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267260	NM_014918.5(CHSY1):c.92C>T (p.Ala31Val)	CHSY1, LOC130058068 (A31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267259	NM_014918.5(CHSY1):c.716T>C (p.Ile239Thr)	CHSY1 (I239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267258	NM_014918.5(CHSY1):c.2312A>G (p.Tyr771Cys)	CHSY1 (Y771C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267257	NM_014918.5(CHSY1):c.520G>A (p.Val174Met)	CHSY1 (V174M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3144792	NM_014918.5(CHSY1):c.884G>C (p.Ser295Thr)	CHSY1 (S295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144791	NM_014918.5(CHSY1):c.611C>T (p.Thr204Met)	CHSY1 (T204M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144790	NM_014918.5(CHSY1):c.454A>T (p.Met152Leu)	CHSY1 (M152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144788	NM_014918.5(CHSY1):c.224C>T (p.Ser75Leu)	CHSY1, LOC130058068 (S75L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144787	NM_014918.5(CHSY1):c.1894G>A (p.Val632Ile)	CHSY1 (V632I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144786	NM_014918.5(CHSY1):c.1675C>G (p.Leu559Val)	CHSY1 (L559V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144785	NM_014918.5(CHSY1):c.1593T>G (p.Asp531Glu)	CHSY1 (D531E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144784	NM_014918.5(CHSY1):c.1370A>G (p.Lys457Arg)	CHSY1 (K457R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144783	NM_014918.5(CHSY1):c.1296C>G (p.Ile432Met)	CHSY1 (I432M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3057741	NM_014918.5(CHSY1):c.868A>C (p.Arg290=)	CHSY1	Single nucleotide variant (synonymous variant)	CHSY1-related disorder	GLikely benign
Select item 3036070	NM_014918.5(CHSY1):c.1040C>T (p.Thr347Ile)	CHSY1 (T347I)	Single nucleotide variant (missense variant)	CHSY1-related disorder	GUncertain significance
Select item 3032905	NM_014918.5(CHSY1):c.1386A>C (p.Lys462Asn)	CHSY1 (K462N)	Single nucleotide variant (missense variant)	CHSY1-related disorder	GUncertain significance
Select item 3014412	NM_014918.5(CHSY1):c.1410C>T (p.His470=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 3008947	NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys)	CHSY1 (E192K)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 3007408	NM_014918.5(CHSY1):c.138G>A (p.Glu46=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 3000768	NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)	CHSY1, LOC130058068 (A61V)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2981826	NM_014918.5(CHSY1):c.2022C>A (p.Pro674=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2973044	NM_014918.5(CHSY1):c.817-11T>C	CHSY1	Single nucleotide variant (intron variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2899550	NM_014918.5(CHSY1):c.817-6T>G	CHSY1	Single nucleotide variant (intron variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2883059	NM_014918.5(CHSY1):c.48C>A (p.Leu16=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2882171	NM_014918.5(CHSY1):c.1002G>T (p.Leu334=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2871063	NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)	CHSY1 (G707V)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2870052	NM_014918.5(CHSY1):c.1296C>T (p.Ile432=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2857244	NM_014918.5(CHSY1):c.2307G>A (p.Ser769=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2821776	NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)	CHSY1, LOC130058068 (D76N)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2795991	NM_014918.5(CHSY1):c.1926G>A (p.Gln642=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2741422	NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)	CHSY1 (T557M)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2728319	NM_014918.5(CHSY1):c.477C>T (p.His159=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2727825	NM_014918.5(CHSY1):c.432G>A (p.Pro144=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2726294	NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2724406	NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val)	CHSY1 (A471V)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2706147	NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp)	CHSY1 (E192D)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2701658	NM_014918.5(CHSY1):c.1213T>C (p.Leu405=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2683332	NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)	CHSY1 (G765A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
Select item 2645753	NM_014918.5(CHSY1):c.37C>T (p.Leu13=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645752	NM_014918.5(CHSY1):c.279C>T (p.Thr93=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645751	NM_014918.5(CHSY1):c.817-9142T>C	CHSY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645750	NM_014918.5(CHSY1):c.817-6450_817-6449insGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGACGGTGCTCCATGGAGGGCGTTCACAGGGAAGGG	CHSY1	Insertion (intron variant)	not provided	GLikely benign
Select item 2645749	NM_014918.5(CHSY1):c.1436A>C (p.Lys479Thr)	CHSY1 (K479T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619638	NM_014918.5(CHSY1):c.962G>A (p.Ser321Asn)	CHSY1 (S321N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609628	NM_014918.5(CHSY1):c.1891G>A (p.Asp631Asn)	CHSY1 (D631N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2556341	NM_014918.5(CHSY1):c.157G>A (p.Ala53Thr)	CHSY1, LOC130058068 (A53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541004	NM_014918.5(CHSY1):c.825G>C (p.Gln275His)	CHSY1 (Q275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531438	NM_014918.5(CHSY1):c.49G>A (p.Val17Ile)	CHSY1, LOC130058068 (V17I)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GUncertain significance
Select item 2510124	NM_014918.5(CHSY1):c.2320A>T (p.Thr774Ser)	CHSY1 (T774S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501454	NM_014918.5(CHSY1):c.1303G>A (p.Gly435Ser)	CHSY1 (G435S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2485165	NM_014918.5(CHSY1):c.1702G>A (p.Val568Met)	CHSY1 (V568M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484312	NM_014918.5(CHSY1):c.1484A>G (p.Lys495Arg)	CHSY1 (K495R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440074	NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg)	CHSY1 (Q491R)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2440073	NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)	CHSY1, LOC130058068 (G51R)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2426854	NC_000015.9:g.(?_101549022)_(101719205_?)dup	CHSY1, LRRK1	Duplication	not provided	GUncertain significance
Select item 2420387	NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly)	CHSY1 (R395G)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2367902	NM_014918.5(CHSY1):c.1411G>A (p.Ala471Thr)	CHSY1 (A471T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347905	NM_014918.5(CHSY1):c.40C>T (p.Leu14Phe)	CHSY1, LOC130058068 (L14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340711	NM_014918.5(CHSY1):c.2014A>G (p.Lys672Glu)	CHSY1 (K672E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339755	NM_014918.5(CHSY1):c.271G>T (p.Val91Phe)	CHSY1, LOC130058068 (V91F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308953	NM_014918.5(CHSY1):c.1693G>A (p.Val565Ile)	CHSY1 (V565I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288622	NM_014918.5(CHSY1):c.1168G>A (p.Gly390Ser)	CHSY1 (G390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245221	NM_014918.5(CHSY1):c.1612A>T (p.Ile538Phe)	CHSY1 (I538F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239439	NM_014918.5(CHSY1):c.1658A>G (p.Asn553Ser)	CHSY1 (N553S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234777	NM_014918.5(CHSY1):c.1059C>G (p.Asp353Glu)	CHSY1 (D353E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223674	NM_014918.5(CHSY1):c.1793A>G (p.Asp598Gly)	CHSY1 (D598G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215533	NM_014918.5(CHSY1):c.89G>A (p.Arg30Gln)	CHSY1, LOC130058068 (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209855	NM_014918.5(CHSY1):c.1085T>C (p.Phe362Ser)	CHSY1 (F362S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196283	NM_014918.5(CHSY1):c.1167C>T (p.Asp389=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2172908	NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)	CHSY1 (Q563H)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2161026	NM_014918.5(CHSY1):c.816+10G>T	CHSY1	Single nucleotide variant (intron variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2152911	NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GBenign
Select item 2138992	NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)	CHSY1 (N498Y)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GUncertain significance
Select item 2136978	NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)	CHSY1 (V740A)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2124397	NM_014918.5(CHSY1):c.417G>A (p.Val139=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2114626	NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His)	CHSY1 (Y447H)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2094883	NM_014918.5(CHSY1):c.727C>G (p.Leu243Val)	CHSY1 (L243V)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2092290	NM_014918.5(CHSY1):c.469C>G (p.His157Asp)	CHSY1 (H157D)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2085702	NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)	CHSY1 (V799L)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2074934	NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln)	CHSY1 (P135Q)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2070967	NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)	CHSY1, LOC130058068 (T93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060602	NM_014918.5(CHSY1):c.813T>C (p.Tyr271=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2057715	NM_014918.5(CHSY1):c.2403A>G (p.Thr801=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2057702	NM_014918.5(CHSY1):c.1890C>T (p.Cys630=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2055051	NM_014918.5(CHSY1):c.120G>C (p.Arg40=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 1989582	NM_014918.5(CHSY1):c.2232C>T (p.His744=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GBenign
Select item 1947415	NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe)	CHSY1 (L194F)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1934391	NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)	CHSY1 (N622S)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance

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