ClinVar for Gene (Select 57670) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288172	NM_001164665.2(KIAA1549):c.4433C>G (p.Ala1478Gly)	KIAA1549 (A1478G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288171	NM_001164665.2(KIAA1549):c.1052C>T (p.Ala351Val)	KIAA1549 (A351V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288170	NM_001164665.2(KIAA1549):c.2180T>C (p.Leu727Pro)	KIAA1549 (L727P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288169	NM_001164665.2(KIAA1549):c.2885C>T (p.Ala962Val)	KIAA1549 (A962V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288168	NM_001164665.2(KIAA1549):c.5498T>C (p.Ile1833Thr)	KIAA1549 (I1833T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288167	NM_001164665.2(KIAA1549):c.737C>T (p.Pro246Leu)	KIAA1549 (P246L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114233	NM_001164665.2(KIAA1549):c.871C>G (p.Gln291Glu)	KIAA1549 (Q291E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114230	NM_001164665.2(KIAA1549):c.5522C>T (p.Pro1841Leu)	KIAA1549 (P1841L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114229	NM_001164665.2(KIAA1549):c.5246G>C (p.Ser1749Thr)	KIAA1549 (S1749T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114228	NM_001164665.2(KIAA1549):c.5159C>T (p.Ala1720Val)	KIAA1549 (A1720V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3114226	NM_001164665.2(KIAA1549):c.4825G>A (p.Gly1609Ser)	KIAA1549 (G1609S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114225	NM_001164665.2(KIAA1549):c.4556A>C (p.Gln1519Pro)	KIAA1549 (Q1519P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114224	NM_001164665.2(KIAA1549):c.4516G>A (p.Asp1506Asn)	KIAA1549 (D1506N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114223	NM_001164665.2(KIAA1549):c.4426C>G (p.Pro1476Ala)	KIAA1549 (P1476A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114221	NM_001164665.2(KIAA1549):c.4103T>C (p.Ile1368Thr)	KIAA1549 (I1368T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114219	NM_001164665.2(KIAA1549):c.3625A>G (p.Met1209Val)	KIAA1549 (M1209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3114218	NM_001164665.2(KIAA1549):c.3604G>A (p.Glu1202Lys)	KIAA1549 (E1202K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114216	NM_001164665.2(KIAA1549):c.3236T>C (p.Val1079Ala)	KIAA1549 (V1079A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114215	NM_001164665.2(KIAA1549):c.2845A>G (p.Ile949Val)	KIAA1549 (I949V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114214	NM_001164665.2(KIAA1549):c.2593G>T (p.Val865Phe)	KIAA1549 (V865F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3114213	NM_001164665.2(KIAA1549):c.2507C>T (p.Thr836Met)	KIAA1549 (T836M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114211	NM_001164665.2(KIAA1549):c.1891C>T (p.Pro631Ser)	KIAA1549 (P631S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114209	NM_001164665.2(KIAA1549):c.1631C>T (p.Ala544Val)	KIAA1549 (A544V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114208	NM_001164665.2(KIAA1549):c.1497A>C (p.Glu499Asp)	KIAA1549 (E499D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114207	NM_001164665.2(KIAA1549):c.1429G>T (p.Asp477Tyr)	KIAA1549 (D477Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114206	NM_001164665.2(KIAA1549):c.1342G>T (p.Ala448Ser)	KIAA1549 (A448S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064858	NM_001164665.2(KIAA1549):c.2400delinsAA (p.Glu801fs)	KIAA1549 (E801fs)	Indel (frameshift variant)	Retinitis pigmentosa 86	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3043930	NM_001164665.2(KIAA1549):c.187+6C>T	KIAA1549	Single nucleotide variant (intron variant)	KIAA1549-related disorder	GLikely benign
Select item 3040906	NM_001164665.2(KIAA1549):c.4560C>T (p.Thr1520=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign
Select item 3040644	NM_001164665.2(KIAA1549):c.174C>T (p.Ala58=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign
Select item 3035473	NM_001164665.2(KIAA1549):c.5736C>A (p.Thr1912=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign
Select item 3027936	NM_001164665.2(KIAA1549):c.95C>T (p.Pro32Leu)	KIAA1549 (P32L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027935	NM_001164665.2(KIAA1549):c.112C>T (p.Arg38Cys)	KIAA1549 (R38C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027934	NM_001164665.2(KIAA1549):c.218C>T (p.Ser73Phe)	KIAA1549 (S73F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027933	NM_001164665.2(KIAA1549):c.385A>G (p.Thr129Ala)	KIAA1549 (T129A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027932	NM_001164665.2(KIAA1549):c.625A>T (p.Thr209Ser)	KIAA1549 (T209S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 3027931	NM_001164665.2(KIAA1549):c.698G>A (p.Arg233Gln)	KIAA1549 (R233Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027930	NM_001164665.2(KIAA1549):c.834A>G (p.Glu278=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027928	NM_001164665.2(KIAA1549):c.1049C>T (p.Ala350Val)	KIAA1549 (A350V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027927	NM_001164665.2(KIAA1549):c.1074T>C (p.His358=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027926	NM_001164665.2(KIAA1549):c.1094C>T (p.Pro365Leu)	KIAA1549 (P365L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027925	NM_001164665.2(KIAA1549):c.1357A>G (p.Met453Val)	KIAA1549 (M453V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3027924	NM_001164665.2(KIAA1549):c.1564C>T (p.Pro522Ser)	KIAA1549 (P522S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027923	NM_001164665.2(KIAA1549):c.1743T>G (p.Leu581=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027922	NM_001164665.2(KIAA1549):c.1747G>A (p.Val583Ile)	KIAA1549 (V583I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027921	NM_001164665.2(KIAA1549):c.1796_1797del (p.Glu599fs)	KIAA1549 (E599fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027920	NM_001164665.2(KIAA1549):c.2132C>T (p.Pro711Leu)	KIAA1549 (P711L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3027919	NM_001164665.2(KIAA1549):c.2547G>A (p.Ser849=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027918	NM_001164665.2(KIAA1549):c.2632A>C (p.Asn878His)	KIAA1549 (N878H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027917	NM_001164665.2(KIAA1549):c.2806C>T (p.Pro936Ser)	KIAA1549 (P936S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027916	NM_001164665.2(KIAA1549):c.3018C>G (p.Phe1006Leu)	KIAA1549 (F1006L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027915	NM_001164665.2(KIAA1549):c.3202A>G (p.Ile1068Val)	KIAA1549 (I1068V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027914	NM_001164665.2(KIAA1549):c.3270G>C (p.Thr1090=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027913	NM_001164665.2(KIAA1549):c.3292A>C (p.Ile1098Leu)	KIAA1549 (I1098L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027912	NM_001164665.2(KIAA1549):c.3470A>C (p.Tyr1157Ser)	KIAA1549 (Y1157S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027911	NM_001164665.2(KIAA1549):c.3623G>A (p.Arg1208Gln)	KIAA1549 (R1208Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027910	NM_001164665.2(KIAA1549):c.3768T>G (p.Ser1256=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027909	NM_001164665.2(KIAA1549):c.4005T>C (p.Thr1335=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027908	NM_001164665.2(KIAA1549):c.4325C>T (p.Ser1442Phe)	KIAA1549 (S1442F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027907	NM_001164665.2(KIAA1549):c.4349C>T (p.Pro1450Leu)	KIAA1549 (P1450L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027906	NM_001164665.2(KIAA1549):c.4417T>A (p.Ser1473Thr)	KIAA1549 (S1473T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027905	NM_001164665.2(KIAA1549):c.4615G>A (p.Ala1539Thr)	KIAA1549 (A1539T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027904	NM_001164665.2(KIAA1549):c.4689G>A (p.Arg1563=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027903	NM_001164665.2(KIAA1549):c.5198A>G (p.Gln1733Arg)	KIAA1549 (Q1733R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 3027902	NM_001164665.2(KIAA1549):c.5326A>G (p.Thr1776Ala)	KIAA1549 (T1776A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027901	NM_001164665.2(KIAA1549):c.5432G>A (p.Arg1811Gln)	KIAA1549 (R1811Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3026936	NM_001164665.2(KIAA1549):c.5079C>A (p.Asp1693Glu)	KIAA1549 (D1693E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026549	NM_001164665.2(KIAA1549):c.4139C>T (p.Pro1380Leu)	KIAA1549 (P1380L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020107	NM_001164665.2(KIAA1549):c.27A>G (p.Arg9=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019966	NM_001164665.2(KIAA1549):c.1823G>A (p.Arg608His)	KIAA1549 (R608H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012699	NM_001164665.2(KIAA1549):c.3603C>T (p.Ser1201=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006650	NM_001164665.2(KIAA1549):c.2892A>G (p.Arg964=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003938	NM_001164665.2(KIAA1549):c.1617C>T (p.Gly539=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000964	NM_001164665.2(KIAA1549):c.1545T>C (p.Ser515=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994040	NM_001164665.2(KIAA1549):c.5286A>T (p.Pro1762=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988944	NM_001164665.2(KIAA1549):c.78G>A (p.Gly26=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987664	NM_001164665.2(KIAA1549):c.60G>T (p.Gly20=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985167	NM_001164665.2(KIAA1549):c.1902C>T (p.Leu634=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978720	NM_001164665.2(KIAA1549):c.5277G>A (p.Pro1759=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970829	NM_001164665.2(KIAA1549):c.4778C>T (p.Ser1593Leu)	KIAA1549 (S1593L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2969200	NM_001164665.2(KIAA1549):c.3852C>T (p.Val1284=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960233	NM_001164665.2(KIAA1549):c.4563G>T (p.Ala1521=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960092	NM_001164665.2(KIAA1549):c.5319G>A (p.Leu1773=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955149	NM_001164665.2(KIAA1549):c.4485G>A (p.Pro1495=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907272	NM_001164665.2(KIAA1549):c.4443G>A (p.Arg1481=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903996	NM_001164665.2(KIAA1549):c.4980G>A (p.Leu1660=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894058	NM_001164665.2(KIAA1549):c.1972T>A (p.Phe658Ile)	KIAA1549 (F658I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881511	NM_001164665.2(KIAA1549):c.3513C>T (p.Val1171=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879821	NM_001164665.2(KIAA1549):c.1695C>T (p.Leu565=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878445	NM_001164665.2(KIAA1549):c.4804C>T (p.Arg1602Cys)	KIAA1549 (R1602C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875086	NM_001164665.2(KIAA1549):c.1584C>T (p.Leu528=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873895	NM_001164665.2(KIAA1549):c.1821A>C (p.Glu607Asp)	KIAA1549 (E607D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871540	NM_001164665.2(KIAA1549):c.1500C>T (p.Ile500=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2871154	NM_001164665.2(KIAA1549):c.2471T>C (p.Val824Ala)	KIAA1549 (V824A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867259	NM_001164665.2(KIAA1549):c.4776-16C>A	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867084	NM_001164665.2(KIAA1549):c.1910C>T (p.Ser637Phe)	KIAA1549 (S637F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865038	NM_001164665.2(KIAA1549):c.4930-8C>T	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865016	NM_001164665.2(KIAA1549):c.3525C>T (p.Leu1175=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864059	NM_001164665.2(KIAA1549):c.5208C>T (p.Ser1736=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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