STK36[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 1229044	NM_015690.5(STK36):c.-89-240G>A	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279043	NM_015690.5(STK36):c.-89-227A>T	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 762382	NM_015690.5(STK36):c.64C>A (p.Arg22=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3171392	NM_015690.5(STK36):c.119G>T (p.Arg40Leu)	STK36 (R40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249637	NM_015690.5(STK36):c.160A>G (p.Ile54Val)	STK36 (I54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243294	NM_015690.5(STK36):c.166C>T (p.Arg56Trp)	STK36 (R56W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2218761	NM_015690.5(STK36):c.175C>T (p.Arg59Trp)	STK36 (R59W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1268211	NM_015690.5(STK36):c.303+120A>C	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266281	NM_015690.5(STK36):c.304-76A>G	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319100	NM_015690.5(STK36):c.316G>A (p.Ala106Thr)	STK36 (A106T)	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 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 2466192	NM_015690.5(STK36):c.397C>T (p.Leu133Phe)	STK36 (L133F)	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 3171410	NM_015690.5(STK36):c.422T>C (p.Leu141Pro)	STK36 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272769	NM_015690.5(STK36):c.434+68dup	STK36	Duplication (intron variant)	not provided	GBenign
Select item 1280757	NM_015690.5(STK36):c.434+67_434+68del	STK36	Deletion (intron variant)	not provided	GBenign
Select item 1178774	NM_015690.5(STK36):c.434+68del	STK36	Deletion (intron variant)	not provided	GBenign
Select item 1231128	NM_015690.5(STK36):c.434+70A>G	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281190	NM_015690.5(STK36):c.434+145G>A	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
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 2352675	NM_015690.5(STK36):c.448A>G (p.Met150Val)	STK36 (M150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3347694	NM_015690.5(STK36):c.463A>T (p.Met155Leu)	STK36 (M155L)	Single nucleotide variant (missense variant)	STK36-related disorder	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 2483327	NM_015690.5(STK36):c.532G>A (p.Asp178Asn)	STK36 (D178N)	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 3350730	NM_015690.5(STK36):c.642G>A (p.Lys214=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 2217125	NM_015690.5(STK36):c.652C>T (p.Arg218Cys)	STK36 (R218C)	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 2291405	NM_015690.5(STK36):c.671G>A (p.Ser224Asn)	STK36 (S224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232682	NM_015690.5(STK36):c.684+55T>C	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267632	NM_015690.5(STK36):c.684+110C>T	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
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 2412440	NM_015690.5(STK36):c.754C>T (p.Pro252Ser)	STK36 (P252S)	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 752832	NM_015690.5(STK36):c.779-7C>T	STK36	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1280618	NM_015690.5(STK36):c.884A>G (p.Lys295Arg)	STK36 (K295R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2513275	NM_015690.5(STK36):c.917A>G (p.Tyr306Cys)	STK36 (Y306C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3049276	NM_015690.5(STK36):c.948+7G>A	STK36	Single nucleotide variant (intron variant)	STK36-related disorder	GLikely benign
Select item 791889	NM_015690.5(STK36):c.985G>A (p.Asp329Asn)	STK36 (D329N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3171391	NM_015690.5(STK36):c.1057C>T (p.Leu353Phe)	STK36 (L353F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724203	NM_015690.5(STK36):c.1066G>A (p.Gly356Arg)	STK36 (G356R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1247092	NM_015690.5(STK36):c.1137-135G>T	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265137	NM_015690.5(STK36):c.1137-17T>C	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403499	NM_015690.5(STK36):c.1158T>C (p.Asp386=)	STK36	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2253263	NM_015690.5(STK36):c.1192G>A (p.Val398Met)	STK36 (V398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691312	NM_015690.5(STK36):c.1232A>T (p.Asn411Ile)	STK36 (N411I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 46	GUncertain significance
Select item 770134	NM_015690.5(STK36):c.1245C>A (p.Asp415Glu)	STK36 (D415E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2544969	NM_015690.5(STK36):c.1285C>G (p.Pro429Ala)	STK36 (P429A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067046	NM_015690.5(STK36):c.1330C>T (p.Pro444Ser)	STK36 (P444S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1276373	NM_015690.5(STK36):c.1381-182T>C	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283545	NM_015690.5(STK36):c.1381-88A>G	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
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 2380653	NM_015690.5(STK36):c.1393A>G (p.Ile465Val)	STK36 (I465V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1179004	NM_015690.5(STK36):c.1399del (p.Glu467fs)	STK36 (E467fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 46	GPathogenic
Select item 746833	NM_015690.5(STK36):c.1419G>A (p.Leu473=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183404	NM_015690.5(STK36):c.1429C>T (p.Arg477Trp)	STK36 (R477W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1221626	NM_015690.5(STK36):c.1464T>C (p.Asp488=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1154598	NM_015690.5(STK36):c.1489C>G (p.Arg497Gly)	STK36 (R497G)	Single nucleotide variant (missense variant)	not provided	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 3040049	NM_015690.5(STK36):c.1542G>A (p.Glu514=)	STK36	Single nucleotide variant (synonymous variant)	STK36-related disorder	GLikely benign
Select item 1277505	NM_015690.5(STK36):c.1560+122G>A	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
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 2602217	NM_015690.5(STK36):c.1569G>T (p.Trp523Cys)	STK36 (W523C)	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 711354	NM_015690.5(STK36):c.1611C>T (p.Ala537=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3323332	NM_015690.5(STK36):c.1685A>G (p.Asn562Ser)	STK36 (N562S)	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 403497	NM_015690.5(STK36):c.1748G>A (p.Arg583Gln)	STK36 (R583Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1273782	NM_015690.5(STK36):c.1764+14A>G	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236085	NM_015690.5(STK36):c.1764+125C>T	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
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 2270913	NM_015690.5(STK36):c.1867C>T (p.Leu623Phe)	STK36 (L623F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2549133	NM_015690.5(STK36):c.1895T>C (p.Leu632Pro)	STK36 (L632P)	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 1244340	NM_015690.5(STK36):c.1913A>C (p.Gln638Pro)	STK36 (Q638P)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3323328	NM_015690.5(STK36):c.1976C>A (p.Ser659Tyr)	STK36 (S659Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232830	NM_015690.5(STK36):c.2006C>T (p.Pro669Leu)	STK36 (P669L)	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 3352228	NM_015690.5(STK36):c.2043+4C>T	STK36	Single nucleotide variant (intron variant)	STK36-related disorder	GLikely benign
Select item 1265352	NM_015690.5(STK36):c.2043+43_2043+44insTT	STK36	Insertion (intron variant)	not provided	GBenign
Select item 1247234	NM_015690.5(STK36):c.2043+45_2043+46del	STK36	Deletion (intron variant)	not provided	GBenign
Select item 1290443	NM_015690.5(STK36):c.2043+46A>G	STK36	Single nucleotide variant (intron variant)	not provided	GBenign

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