ClinVar for Gene (Select 25769) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319172	NM_020344.4(SLC24A2):c.767T>A (p.Phe256Tyr)	SLC24A2 (F256Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319170	NM_020344.4(SLC24A2):c.876A>T (p.Gln292His)	SLC24A2 (Q292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319169	NM_020344.4(SLC24A2):c.1645C>T (p.Leu549Phe)	SLC24A2 (L532F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319168	NM_020344.4(SLC24A2):c.62T>C (p.Leu21Pro)	SLC24A2 (L21P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319167	NM_020344.4(SLC24A2):c.962C>T (p.Thr321Ile)	SLC24A2 (T321I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319166	NM_020344.4(SLC24A2):c.961A>C (p.Thr321Pro)	SLC24A2 (T321P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319165	NM_020344.4(SLC24A2):c.815C>T (p.Ala272Val)	SLC24A2 (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319164	NM_020344.4(SLC24A2):c.1670G>A (p.Arg557Gln)	SLC24A2 (R540Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163542	NM_020344.4(SLC24A2):c.980G>A (p.Arg327His)	SLC24A2 (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163541	NM_020344.4(SLC24A2):c.977C>T (p.Pro326Leu)	SLC24A2 (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163540	NM_020344.4(SLC24A2):c.620C>T (p.Thr207Ile)	SLC24A2 (T207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163539	NM_020344.4(SLC24A2):c.595G>A (p.Ala199Thr)	SLC24A2 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163538	NM_020344.4(SLC24A2):c.257C>G (p.Thr86Ser)	SLC24A2 (T86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163537	NM_020344.4(SLC24A2):c.229A>G (p.Arg77Gly)	SLC24A2 (R77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163536	NM_020344.4(SLC24A2):c.1468G>A (p.Val490Ile)	SLC24A2 (V473I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163535	NM_020344.4(SLC24A2):c.1351G>A (p.Ala451Thr)	SLC24A2 (A434T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163534	NM_020344.4(SLC24A2):c.131T>C (p.Met44Thr)	SLC24A2 (M44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163533	NM_020344.4(SLC24A2):c.1256G>C (p.Ser419Thr)	SLC24A2 (S402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163532	NM_020344.4(SLC24A2):c.1225G>A (p.Val409Met)	SLC24A2 (V392M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163531	NM_020344.4(SLC24A2):c.1072G>A (p.Ala358Thr)	SLC24A2 (A358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2615055	NM_020344.4(SLC24A2):c.572C>T (p.Thr191Ile)	SLC24A2 (T191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614738	NM_020344.4(SLC24A2):c.1300G>A (p.Val434Ile)	SLC24A2 (V434I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551710	NM_020344.4(SLC24A2):c.247C>A (p.His83Asn)	SLC24A2 (H83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533070	NM_020344.4(SLC24A2):c.910G>A (p.Ala304Thr)	SLC24A2 (A304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524425	NM_020344.4(SLC24A2):c.335G>A (p.Ser112Asn)	SLC24A2 (S112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515342	NM_020344.4(SLC24A2):c.887G>A (p.Arg296His)	SLC24A2 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512266	NM_020344.4(SLC24A2):c.1328T>C (p.Ile443Thr)	SLC24A2 (I443T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483862	NM_020344.4(SLC24A2):c.1849G>A (p.Val617Ile)	SLC24A2 (V600I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474639	NM_020344.4(SLC24A2):c.776A>G (p.Asn259Ser)	SLC24A2 (N259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471539	NM_020344.4(SLC24A2):c.29C>T (p.Thr10Ile)	SLC24A2 (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466667	NM_020344.4(SLC24A2):c.1547T>G (p.Leu516Trp)	SLC24A2 (L499W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464792	NM_020344.4(SLC24A2):c.1765G>A (p.Val589Ile)	SLC24A2 (V589I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365260	NM_020344.4(SLC24A2):c.607G>A (p.Val203Ile)	SLC24A2 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350859	NM_020344.4(SLC24A2):c.1975G>A (p.Val659Ile)	SLC24A2 (V642I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350002	NM_020344.4(SLC24A2):c.322G>A (p.Glu108Lys)	SLC24A2 (E108K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316463	NM_020344.4(SLC24A2):c.136C>G (p.Leu46Val)	SLC24A2 (L46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311615	NM_020344.4(SLC24A2):c.112C>G (p.Arg38Gly)	SLC24A2 (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294641	NM_020344.4(SLC24A2):c.1498C>G (p.Pro500Ala)	SLC24A2 (P500A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265461	NM_020344.4(SLC24A2):c.362C>T (p.Pro121Leu)	SLC24A2 (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262813	NM_020344.4(SLC24A2):c.1972C>A (p.Pro658Thr)	SLC24A2 (P641T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244308	NM_020344.4(SLC24A2):c.1601T>G (p.Ile534Ser)	SLC24A2 (I517S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237523	NM_020344.4(SLC24A2):c.1539C>G (p.Phe513Leu)	SLC24A2 (F513L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227705	NM_020344.4(SLC24A2):c.1202G>A (p.Arg401Lys)	SLC24A2 (R384K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809313	GRCh37/hg19 9p22.1(chr9:19558806-19625173)x1	SLC24A2	Copy number loss	not provided	GUncertain significance
Select item 1808046	GRCh37/hg19 9p22.3-21.3(chr9:15328600-20821644)x3	ACER2, ADAMTSL1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1340732	GRCh37/hg19 9p22.1(chr9:19328752-19535747)x3	ACER2, DENND4C +2 more	Copy number gain	not provided	GLikely benign
Select item 1340159	GRCh37/hg19 9p22.1(chr9:19424083-19654773)x1	ACER2, SLC24A2	Copy number loss	not provided	GUncertain significance
Select item 980353	GRCh37/hg19 9p22.1(chr9:19289042-19526144)x3	DENND4C, RPS6 +2 more	Copy number gain	not provided	GLikely benign
Select item 815244	GRCh37/hg19 9p22.1-21.3(chr9:19686451-19959038)x1	SLC24A2	Copy number loss	not provided	GUncertain significance
Select item 815243	GRCh37/hg19 9p22.1(chr9:19283503-19569670)x3	SLC24A2, RPS6 +2 more	Copy number gain	not provided	GLikely benign
Select item 815242	GRCh37/hg19 9p22.1(chr9:19080351-19544088)x3	PLIN2, SLC24A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 688338	GRCh37/hg19 9p22.1-21.3(chr9:19536094-20653331)x1	MLLT3, SLC24A2	Copy number loss	not provided	GUncertain significance
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	ZDHHC21, ACER2 +61 more	Copy number gain	not provided	GPathogenic
Select item 563663	GRCh37/hg19 9p22.1-21.3(chr9:19544087-20653468)x1	SLC24A2, MLLT3	Copy number loss	not provided	GLikely benign
Select item 563661	GRCh37/hg19 9p22.1-21.3(chr9:18944282-19964747)x3	RRAGA, SAXO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563660	GRCh37/hg19 9p22.1-21.3(chr9:19430459-20420946)x3	ACER2, SLC24A2 +1 more	Copy number gain	not provided	GLikely benign
Select item 563650	GRCh37/hg19 9p22.1(chr9:18935985-19603778)x3	RRAGA, RPS6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563575	GRCh37/hg19 9p22.1(chr9:19604951-19684827)x1	SLC24A2	Copy number loss	not provided	GUncertain significance
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 547114	GRCh37/hg19 9p22.1-21.3(chr9:19630553-20096994)x3	SLC24A2	Copy number gain	not provided	GLikely benign
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 445347	NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser)	SLC24A2 (N601S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442255	GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3	ACER2, ADAMTSL1 +46 more	Copy number gain	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394899	GRCh37/hg19 9p22.1(chr9:19409724-19516707)x3	ACER2, SLC24A2	Copy number gain	See cases	GLikely benign
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2