ClinVar for Gene (Select 27148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352228	NM_015690.5(STK36):c.2043+4C>T	STK36	Single nucleotide variant (intron variant)	STK36-related disorder	GLikely benign
Select item 3350730	NM_015690.5(STK36):c.642G>A (p.Lys214=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3347694	NM_015690.5(STK36):c.463A>T (p.Met155Leu)	STK36 (M155L)	Single nucleotide variant (missense variant)	STK36-related disorder	GUncertain significance
Select item 3323339	NM_015690.5(STK36):c.3632A>G (p.Asn1211Ser)	STK36 (N1190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323338	NM_015690.5(STK36):c.1909C>A (p.Pro637Thr)	STK36 (P637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323337	NM_015690.5(STK36):c.1810A>G (p.Ile604Val)	STK36 (I604V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323336	NM_015690.5(STK36):c.2162G>T (p.Cys721Phe)	STK36 (C721F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323335	NM_015690.5(STK36):c.2465T>C (p.Met822Thr)	STK36 (M822T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323334	NM_015690.5(STK36):c.2446A>G (p.Thr816Ala)	STK36 (T816A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323333	NM_015690.5(STK36):c.2359G>A (p.Val787Ile)	STK36 (V787I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323332	NM_015690.5(STK36):c.1685A>G (p.Asn562Ser)	STK36 (N562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323331	NM_015690.5(STK36):c.482A>G (p.Lys161Arg)	STK36 (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323330	NM_015690.5(STK36):c.1747C>T (p.Arg583Trp)	STK36 (R583W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323329	NM_015690.5(STK36):c.872G>A (p.Arg291Gln)	STK36 (R291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323328	NM_015690.5(STK36):c.1976C>A (p.Ser659Tyr)	STK36 (S659Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247520	NC_000002.11:g.(?_219524871)_(219679753_?)del	BCS1L, CYP27A1 +3 more	Deletion	not provided	GPathogenic
Select item 3171410	NM_015690.5(STK36):c.422T>C (p.Leu141Pro)	STK36 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171409	NM_015690.5(STK36):c.400G>A (p.Ala134Thr)	STK36 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171408	NM_015690.5(STK36):c.3706C>T (p.Arg1236Trp)	STK36 (R1236W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171406	NM_015690.5(STK36):c.3683T>G (p.Leu1228Arg)	STK36 (L1207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171405	NM_015690.5(STK36):c.365T>A (p.Leu122Gln)	STK36 (L122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171404	NM_015690.5(STK36):c.3625C>T (p.Arg1209Trp)	STK36 (R1188W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171403	NM_015690.5(STK36):c.3513T>G (p.Ser1171Arg)	STK36 (S1150R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171402	NM_015690.5(STK36):c.3377G>A (p.Arg1126Gln)	STK36 (R1126Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171401	NM_015690.5(STK36):c.3208C>T (p.Leu1070Phe)	STK36 (L1049F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171400	NM_015690.5(STK36):c.2902C>T (p.Arg968Cys)	STK36 (R947C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171399	NM_015690.5(STK36):c.2708C>T (p.Ser903Leu)	STK36 (S903L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171398	NM_015690.5(STK36):c.2651G>A (p.Arg884His)	STK36 (R863H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171397	NM_015690.5(STK36):c.2288T>C (p.Leu763Pro)	STK36 (L763P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171396	NM_015690.5(STK36):c.2285C>T (p.Thr762Ile)	STK36 (T762I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171395	NM_015690.5(STK36):c.2231T>C (p.Met744Thr)	STK36 (M744T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171393	NM_015690.5(STK36):c.1597G>A (p.Ala533Thr)	STK36 (A533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171392	NM_015690.5(STK36):c.119G>T (p.Arg40Leu)	STK36 (R40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171391	NM_015690.5(STK36):c.1057C>T (p.Leu353Phe)	STK36 (L353F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3058942	NM_015690.5(STK36):c.3337C>T (p.Pro1113Ser)	STK36 (P1092S +1 more)	Single nucleotide variant (missense variant)	STK36-related disorder	GUncertain significance
Select item 3054035	NM_015690.5(STK36):c.2880C>T (p.Cys960=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3052934	NM_015690.5(STK36):c.1527C>T (p.Leu509=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3051062	NM_015690.5(STK36):c.1263G>A (p.Gln421=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3049548	NM_015690.5(STK36):c.2418A>G (p.Leu806=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GBenign
Select item 3049276	NM_015690.5(STK36):c.948+7G>A	STK36	Single nucleotide variant (intron variant)	STK36-related disorder	GLikely benign
Select item 3048938	NM_015690.5(STK36):c.718C>T (p.Arg240Trp)	STK36 (R240W)	Single nucleotide variant (missense variant)	STK36-related disorder	GBenign
Select item 3047131	NM_015690.5(STK36):c.2347C>T (p.Leu783=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3041872	NM_015690.5(STK36):c.1869C>T (p.Leu623=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3040324	NM_015690.5(STK36):c.1563A>G (p.Gln521=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3040049	NM_015690.5(STK36):c.1542G>A (p.Glu514=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3038202	NM_015690.5(STK36):c.1384C>G (p.Leu462Val)	STK36 (L462V)	Single nucleotide variant (missense variant)	STK36-related disorder	GBenign
Select item 3037906	NM_015690.5(STK36):c.2328G>A (p.Leu776=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GBenign
Select item 3035658	NM_015690.5(STK36):c.3747G>A (p.Val1249=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 3034080	NM_015690.5(STK36):c.2115G>A (p.Leu705=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2651898	NM_015690.5(STK36):c.2625A>C (p.Ser875=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624081	NM_015690.5(STK36):c.2254G>A (p.Val752Ile)	STK36 (V752I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619494	NM_015690.5(STK36):c.3454G>A (p.Gly1152Arg)	STK36 (G1152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607728	NM_015690.5(STK36):c.1056C>G (p.Ser352Arg)	STK36 (S352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606197	NM_015690.5(STK36):c.2041C>G (p.Gln681Glu)	STK36 (Q681E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605707	NM_015690.5(STK36):c.898C>T (p.Arg300Cys)	STK36 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603264	NM_015690.5(STK36):c.3689A>G (p.Gln1230Arg)	STK36 (Q1230R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602217	NM_015690.5(STK36):c.1569G>T (p.Trp523Cys)	STK36 (W523C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589969	NM_015690.5(STK36):c.2290T>C (p.Tyr764His)	STK36 (Y764H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2549133	NM_015690.5(STK36):c.1895T>C (p.Leu632Pro)	STK36 (L632P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544969	NM_015690.5(STK36):c.1285C>G (p.Pro429Ala)	STK36 (P429A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530062	NM_015690.5(STK36):c.602A>G (p.Tyr201Cys)	STK36 (Y201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517896	NM_015690.5(STK36):c.3820G>A (p.Gly1274Ser)	STK36 (G1253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517077	NM_015690.5(STK36):c.3019G>A (p.Asp1007Asn)	STK36 (D986N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513667	NM_015690.5(STK36):c.3404A>G (p.His1135Arg)	STK36 (H1114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513275	NM_015690.5(STK36):c.917A>G (p.Tyr306Cys)	STK36 (Y306C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2504129	NM_015690.5(STK36):c.454A>G (p.Thr152Ala)	STK36 (T152A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504123	NM_015690.5(STK36):c.365T>C (p.Leu122Pro)	STK36 (L122P)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2495030	NM_015690.5(STK36):c.3064T>A (p.Cys1022Ser)	STK36 (C1022S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494895	NM_015690.5(STK36):c.2347C>G (p.Leu783Val)	STK36 (L783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486769	NM_015690.5(STK36):c.2611G>C (p.Asp871His)	STK36 (D850H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484077	NM_015690.5(STK36):c.3434G>A (p.Gly1145Glu)	STK36 (G1124E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483327	NM_015690.5(STK36):c.532G>A (p.Asp178Asn)	STK36 (D178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466192	NM_015690.5(STK36):c.397C>T (p.Leu133Phe)	STK36 (L133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464884	NM_015690.5(STK36):c.1169C>T (p.Ala390Val)	STK36 (A390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460334	NM_015690.5(STK36):c.664A>T (p.Thr222Ser)	STK36 (T222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2436509	NM_015690.5(STK36):c.1915+1G>A	STK36	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 46	GUncertain significance
Select item 2412440	NM_015690.5(STK36):c.754C>T (p.Pro252Ser)	STK36 (P252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409304	NM_015690.5(STK36):c.3361C>G (p.Pro1121Ala)	STK36 (P1100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406180	NM_015690.5(STK36):c.3404A>C (p.His1135Pro)	STK36 (H1114P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405425	NM_015690.5(STK36):c.2846G>T (p.Ser949Ile)	STK36 (S949I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405374	NM_015690.5(STK36):c.3877A>C (p.Ser1293Arg)	STK36 (S1272R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402343	NM_015690.5(STK36):c.3626G>A (p.Arg1209Gln)	STK36 (R1188Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400000	NM_015690.5(STK36):c.3077C>T (p.Pro1026Leu)	STK36 (P1026L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399505	NM_015690.5(STK36):c.1659C>G (p.Ser553Arg)	STK36 (S553R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395293	NM_015690.5(STK36):c.3628C>T (p.Arg1210Cys)	STK36 (R1189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386633	NM_015690.5(STK36):c.3629G>A (p.Arg1210His)	STK36 (R1210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384253	NM_015690.5(STK36):c.3025A>G (p.Arg1009Gly)	STK36 (R1009G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380653	NM_015690.5(STK36):c.1393A>G (p.Ile465Val)	STK36 (I465V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376601	NM_015690.5(STK36):c.2189G>A (p.Arg730His)	STK36 (R730H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370549	NM_015690.5(STK36):c.3089T>C (p.Val1030Ala)	STK36 (V1030A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368298	NM_015690.5(STK36):c.2178G>C (p.Glu726Asp)	STK36 (E726D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358011	NM_015690.5(STK36):c.88G>A (p.Val30Met)	STK36 (V30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352675	NM_015690.5(STK36):c.448A>G (p.Met150Val)	STK36 (M150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342306	NM_015690.5(STK36):c.3083T>C (p.Met1028Thr)	STK36 (M1028T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337640	NM_015690.5(STK36):c.443G>A (p.Arg148Gln)	STK36 (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333882	NM_015690.5(STK36):c.764C>T (p.Ala255Val)	STK36 (A255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333251	NM_015690.5(STK36):c.3784C>G (p.Gln1262Glu)	STK36 (Q1241E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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