ClinVar for Gene (Select 57481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114170	NM_001394962.1(KIAA1210):c.515G>A (p.Arg172Gln)	KIAA1210 (R312Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114169	NM_001394962.1(KIAA1210):c.505C>T (p.Arg169Cys)	KIAA1210 (R169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114168	NM_001394962.1(KIAA1210):c.167C>G (p.Ser56Cys)	KIAA1210 (S196C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114167	NM_001394962.1(KIAA1210):c.4520T>A (p.Val1507Asp)	KIAA1210 (V1507D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114166	NM_001394962.1(KIAA1210):c.50C>A (p.Ala17Asp)	KIAA1210 (A157D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114164	NM_001394962.1(KIAA1210):c.-2C>T	KIAA1210 (T140I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3114163	NM_001394962.1(KIAA1210):c.3358C>A (p.Gln1120Lys)	KIAA1210 (Q1120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114162	NM_001394962.1(KIAA1210):c.3292G>A (p.Val1098Ile)	KIAA1210 (V1098I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114160	NM_001394962.1(KIAA1210):c.3113G>A (p.Gly1038Asp)	KIAA1210 (G1038D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114159	NM_001394962.1(KIAA1210):c.3000A>T (p.Lys1000Asn)	KIAA1210 (K1000N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114158	NM_020721.1(KIAA1210):c.275C>T (p.Thr92Ile)	KIAA1210 (T92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114157	NM_001394962.1(KIAA1210):c.2119G>A (p.Gly707Arg)	KIAA1210 (G707R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114156	NM_001394962.1(KIAA1210):c.2057C>G (p.Thr686Ser)	KIAA1210 (T862S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114155	NM_001394962.1(KIAA1210):c.1985C>A (p.Ser662Tyr)	KIAA1210 (S662Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114154	NM_020721.1(KIAA1210):c.191G>A (p.Gly64Glu)	KIAA1210 (G64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114153	NM_001394962.1(KIAA1210):c.862G>A (p.Glu288Lys)	KIAA1210 (E288K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114152	NM_020721.1(KIAA1210):c.122C>T (p.Ala41Val)	KIAA1210 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114151	NM_001394962.1(KIAA1210):c.766C>G (p.Gln256Glu)	KIAA1210 (Q396E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114150	NM_001394962.1(KIAA1210):c.713C>T (p.Ala238Val)	KIAA1210 (A378V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3024377	GRCh38/hg38 Xq24(chrX:119146025-119709342)	KIAA1210, LINC03098 +38 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685005	GRCh37/hg19 Xq24(chrX:117968938-118302994)x3	KIAA1210, LONRF3	Copy number gain	not provided	GUncertain significance
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661288	NM_001394962.1(KIAA1210):c.1079G>A (p.Arg360Lys)	KIAA1210 (R360K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661287	NM_001394962.1(KIAA1210):c.1305T>G (p.Leu435=)	KIAA1210	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661286	NM_001394962.1(KIAA1210):c.1739A>T (p.Asp580Val)	KIAA1210 (D580V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661285	NM_001394962.1(KIAA1210):c.4050G>A (p.Leu1350=)	KIAA1210	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624061	NM_001394962.1(KIAA1210):c.3704T>G (p.Phe1235Cys)	KIAA1210 (F1235C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623786	NM_001394962.1(KIAA1210):c.3128C>T (p.Pro1043Leu)	KIAA1210 (P1043L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619928	NM_001394962.1(KIAA1210):c.1323G>A (p.Met441Ile)	KIAA1210 (M441I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600226	NM_001394962.1(KIAA1210):c.1039C>T (p.Arg347Trp)	KIAA1210 (R523W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595460	NM_001394962.1(KIAA1210):c.2120G>A (p.Gly707Glu)	KIAA1210 (G883E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594652	NM_020721.1(KIAA1210):c.22C>G (p.Arg8Gly)	KIAA1210 (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592574	NM_001394962.1(KIAA1210):c.4415C>T (p.Pro1472Leu)	KIAA1210 (P1648L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569730	NM_001394962.1(KIAA1210):c.2296G>A (p.Val766Met)	KIAA1210 (V942M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547370	NM_020721.1(KIAA1210):c.266G>A (p.Arg89Gln)	KIAA1210 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540916	NM_001394962.1(KIAA1210):c.1302G>T (p.Leu434Phe)	KIAA1210 (L434F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538049	NM_001394962.1(KIAA1210):c.2405T>A (p.Met802Lys)	KIAA1210 (M802K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531569	NM_001394962.1(KIAA1210):c.365A>G (p.His122Arg)	KIAA1210 (H122R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521760	NM_001394962.1(KIAA1210):c.2099G>T (p.Arg700Ile)	KIAA1210 (R876I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510071	NM_001394962.1(KIAA1210):c.4543T>G (p.Phe1515Val)	KIAA1210 (F1515V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2493858	NM_001394962.1(KIAA1210):c.867G>C (p.Glu289Asp)	KIAA1210 (E465D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478783	NM_001394962.1(KIAA1210):c.2276C>A (p.Ser759Tyr)	KIAA1210 (S759Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474805	NM_020721.1(KIAA1210):c.104C>T (p.Ala35Val)	KIAA1210 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469890	NM_001394962.1(KIAA1210):c.3553G>A (p.Gly1185Ser)	KIAA1210 (G1185S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466458	NM_001394962.1(KIAA1210):c.5C>G (p.Ala2Gly)	KIAA1210 (A142G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2406143	NM_001394962.1(KIAA1210):c.4595C>T (p.Thr1532Met)	KIAA1210 (T1708M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398593	NM_001394962.1(KIAA1210):c.2990G>A (p.Arg997Gln)	KIAA1210 (R997Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386056	NM_001394962.1(KIAA1210):c.3223A>G (p.Ile1075Val)	KIAA1210 (I1075V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385333	NM_001394962.1(KIAA1210):c.226G>A (p.Ala76Thr)	KIAA1210 (A216T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378755	NM_001394962.1(KIAA1210):c.3044G>A (p.Arg1015His)	KIAA1210 (R1015H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373853	NM_001394962.1(KIAA1210):c.52G>A (p.Gly18Ser)	KIAA1210 (G158S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364141	NM_001394962.1(KIAA1210):c.674C>T (p.Pro225Leu)	KIAA1210 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359039	NM_001394962.1(KIAA1210):c.2432G>A (p.Cys811Tyr)	KIAA1210 (C987Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349597	NM_001394962.1(KIAA1210):c.1846G>T (p.Gly616Cys)	KIAA1210 (G616C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342239	NM_001394962.1(KIAA1210):c.2290G>A (p.Asp764Asn)	KIAA1210 (D764N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332782	NM_001394962.1(KIAA1210):c.1516G>C (p.Glu506Gln)	KIAA1210 (E506Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330147	NM_001394962.1(KIAA1210):c.2137C>A (p.Gln713Lys)	KIAA1210 (Q889K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328401	NM_001394962.1(KIAA1210):c.374G>C (p.Arg125Thr)	KIAA1210 (R265T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328400	NM_001394962.1(KIAA1210):c.3929C>T (p.Ser1310Leu)	KIAA1210 (S1486L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313984	NM_020721.1(KIAA1210):c.263C>A (p.Pro88Gln)	KIAA1210 (P88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303201	NM_001394962.1(KIAA1210):c.815C>T (p.Pro272Leu)	KIAA1210 (P272L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298761	NM_001394962.1(KIAA1210):c.2857G>A (p.Gly953Arg)	KIAA1210 (G1129R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294248	NM_001394962.1(KIAA1210):c.4573T>C (p.Trp1525Arg)	KIAA1210 (W1525R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290753	NM_001394962.1(KIAA1210):c.3608C>T (p.Ser1203Phe)	KIAA1210 (S1379F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2286870	NM_001394962.1(KIAA1210):c.3629G>C (p.Arg1210Pro)	KIAA1210 (R1386P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281675	NM_020721.1(KIAA1210):c.190G>A (p.Gly64Arg)	KIAA1210 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279831	NM_001394962.1(KIAA1210):c.3989G>A (p.Gly1330Asp)	KIAA1210 (G1330D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269963	NM_001394962.1(KIAA1210):c.2033G>A (p.Ser678Asn)	KIAA1210 (S854N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252256	NM_001394962.1(KIAA1210):c.883G>T (p.Val295Phe)	KIAA1210 (V295F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235541	NM_001394962.1(KIAA1210):c.4202T>C (p.Val1401Ala)	KIAA1210 (V1401A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223777	NM_001394962.1(KIAA1210):c.2078C>T (p.Ser693Leu)	KIAA1210 (S693L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218734	NM_001394962.1(KIAA1210):c.4308G>C (p.Glu1436Asp)	KIAA1210 (E1612D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218080	NM_001394962.1(KIAA1210):c.918A>C (p.Lys306Asn)	KIAA1210 (K482N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213112	NM_001394962.1(KIAA1210):c.3223A>C (p.Ile1075Leu)	KIAA1210 (I1251L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1807652	GRCh37/hg19 Xq24(chrX:117651370-118792490)x2	DOCK11, IL13RA1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1327743	NM_001394962.1(KIAA1210):c.2305A>T (p.Ile769Phe)	KIAA1210 (I769F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1285091	NM_001394962.1(KIAA1210):c.3347T>C (p.Leu1116Pro)	KIAA1210 (L1116P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980319	GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	C1GALT1C1, CT47A1 +69 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic

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