"GeneDx"[submitter] AND "STK36"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1280618	NM_015690.5(STK36):c.884A>G (p.Lys295Arg)	STK36 (K295R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 770134	NM_015690.5(STK36):c.1245C>A (p.Asp415Glu)	STK36 (D415E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 1277505	NM_015690.5(STK36):c.1560+122G>A	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
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 1244340	NM_015690.5(STK36):c.1913A>C (p.Gln638Pro)	STK36 (Q638P)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 1239769	NM_015690.5(STK36):c.2043+228G>T	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234511	NM_015690.5(STK36):c.2044-225G>A	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286434	NM_015690.5(STK36):c.2148+126C>G	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783353	NM_015690.5(STK36):c.2368C>G (p.Leu790Val)	STK36 (L790V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1276119	NM_015690.5(STK36):c.2512-109G>A	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270071	NM_015690.5(STK36):c.2587-48T>C	STK36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264307	NM_015690.5(STK36):c.2754T>C (p.Ser918=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 403498	NM_015690.5(STK36):c.3008G>A (p.Gly1003Asp)	STK36 (G1003D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1236340	NM_015690.5(STK36):c.3010G>A (p.Val1004Ile)	STK36 (V1004I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1229524	NM_015690.5(STK36):c.3229T>C (p.Leu1077=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1240633	NM_015690.5(STK36):c.3237C>T (p.Ser1079=)	STK36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235642	NM_015690.5(STK36):c.3335G>A (p.Arg1112Gln)	STK36 (R1091Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779868	NM_015690.5(STK36):c.3540C>T (p.Ala1180=)	STK36	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 46 +1 more	GBenign
Select item 1227003	NM_015690.5(STK36):c.3691T>G (p.Cys1231Gly)	STK36 (C1210G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 42