ClinVar for Gene (Select 6793) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171243	NM_005990.4(STK10):c.99C>G (p.Asn33Lys)	STK10 (N33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171242	NM_005990.4(STK10):c.976G>C (p.Glu326Gln)	STK10 (E326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171241	NM_005990.4(STK10):c.964C>T (p.Arg322Trp)	STK10 (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171240	NM_005990.4(STK10):c.875C>A (p.Pro292His)	STK10 (P292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171239	NM_005990.4(STK10):c.673A>G (p.Ile225Val)	STK10 (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171238	NM_005990.4(STK10):c.587C>T (p.Pro196Leu)	STK10 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171237	NM_005990.4(STK10):c.416G>T (p.Arg139Leu)	STK10 (R139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171236	NM_005990.4(STK10):c.2845A>G (p.Asn949Asp)	STK10 (N949D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171234	NM_005990.4(STK10):c.2563C>T (p.Arg855Trp)	STK10 (R855W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171232	NM_005990.4(STK10):c.2249A>C (p.Gln750Pro)	STK10 (Q750P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171231	NM_005990.4(STK10):c.2210G>T (p.Arg737Leu)	STK10 (R737L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171230	NM_005990.4(STK10):c.2069A>G (p.Lys690Arg)	STK10 (K690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171229	NM_005990.4(STK10):c.1999G>A (p.Glu667Lys)	STK10 (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171228	NM_005990.4(STK10):c.1978A>G (p.Met660Val)	STK10 (M660V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171227	NM_005990.4(STK10):c.1094C>G (p.Pro365Arg)	STK10 (P365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171226	NM_005990.4(STK10):c.1007C>T (p.Thr336Ile)	STK10 (T336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062832	GRCh37/hg19 5q35.1(chr5:171298769-171556788)x3	FBXW11, STK10	Copy number gain	not specified	GUncertain significance
Select item 2608529	NM_005990.4(STK10):c.2435G>A (p.Ser812Asn)	STK10 (S812N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558636	NM_005990.4(STK10):c.1259C>G (p.Ala420Gly)	STK10 (A420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557255	NM_005990.4(STK10):c.495G>A (p.Met165Ile)	STK10 (M165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553726	NM_005990.4(STK10):c.803G>A (p.Arg268His)	STK10 (R268H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553384	NM_005990.4(STK10):c.580G>A (p.Gly194Ser)	STK10 (G194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545234	NM_005990.4(STK10):c.2210G>A (p.Arg737Gln)	STK10 (R737Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531925	NM_005990.4(STK10):c.1081T>A (p.Ser361Thr)	STK10 (S361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531824	NM_005990.4(STK10):c.32G>A (p.Arg11His)	STK10 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515907	NM_005990.4(STK10):c.1261A>G (p.Arg421Gly)	STK10 (R421G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487682	NM_005990.4(STK10):c.2086C>T (p.Arg696Trp)	STK10 (R696W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458583	NM_005990.4(STK10):c.961G>A (p.Gly321Ser)	STK10 (G321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410678	NM_005990.4(STK10):c.1787A>T (p.Lys596Ile)	STK10 (K596I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408283	NM_005990.4(STK10):c.76G>A (p.Val26Ile)	STK10 (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398094	NM_005990.4(STK10):c.305A>G (p.His102Arg)	STK10 (H102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382280	NM_005990.4(STK10):c.1595A>G (p.Lys532Arg)	STK10 (K532R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378191	NM_005990.4(STK10):c.2695C>G (p.Leu899Val)	STK10 (L899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377014	NM_005990.4(STK10):c.352G>A (p.Val118Met)	STK10 (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375690	NM_005990.4(STK10):c.1879A>T (p.Met627Leu)	STK10 (M627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374280	NM_005990.4(STK10):c.2050A>G (p.Met684Val)	STK10 (M684V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357762	NM_005990.4(STK10):c.2758C>T (p.Arg920Cys)	STK10 (R920C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355787	NM_005990.4(STK10):c.2156G>A (p.Arg719Gln)	STK10 (R719Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352096	NM_005990.4(STK10):c.2840G>A (p.Cys947Tyr)	STK10 (C947Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350731	NM_005990.4(STK10):c.2413C>T (p.Arg805Trp)	STK10 (R805W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347336	NM_005990.4(STK10):c.1075G>A (p.Glu359Lys)	STK10 (E359K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341622	NM_005990.4(STK10):c.759C>G (p.Asp253Glu)	STK10 (D253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334259	NM_005990.4(STK10):c.357C>A (p.Asp119Glu)	STK10 (D119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330191	NM_005990.4(STK10):c.2458A>C (p.Met820Leu)	STK10 (M820L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328434	NM_005990.4(STK10):c.2479A>G (p.Ile827Val)	STK10 (I827V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324845	NM_005990.4(STK10):c.1316C>T (p.Pro439Leu)	STK10 (P439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321787	NM_005990.4(STK10):c.1246G>A (p.Val416Met)	STK10 (V416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315673	NM_005990.4(STK10):c.2215C>T (p.Arg739Trp)	STK10 (R739W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310903	NM_005990.4(STK10):c.1603G>T (p.Val535Leu)	STK10 (V535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295986	NM_005990.4(STK10):c.851G>C (p.Ser284Thr)	STK10 (S284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289092	NM_005990.4(STK10):c.887G>A (p.Ser296Asn)	STK10 (S296N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283224	NM_005990.4(STK10):c.1751G>A (p.Ser584Asn)	STK10 (S584N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275735	NM_005990.4(STK10):c.2014C>T (p.Pro672Ser)	STK10 (P672S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259845	NM_005990.4(STK10):c.1890C>G (p.Asp630Glu)	STK10 (D630E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239651	NM_005990.4(STK10):c.2509C>T (p.Arg837Cys)	STK10 (R837C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239421	NM_005990.4(STK10):c.2618G>T (p.Cys873Phe)	STK10 (C873F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239134	NM_005990.4(STK10):c.1366G>A (p.Ala456Thr)	STK10 (A456T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237788	NM_005990.4(STK10):c.1484G>C (p.Ser495Thr)	STK10 (S495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215128	NM_005990.4(STK10):c.98A>G (p.Asn33Ser)	STK10 (N33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1808460	GRCh37/hg19 5q35.1(chr5:171367465-171573381)x1	FBXW11, STK10	Copy number loss	not provided	GUncertain significance
Select item 1807670	GRCh37/hg19 5q35.1(chr5:171536921-171942436)x3	EFCAB9, LOC100288254 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 980752	GRCh37/hg19 5q35.1(chr5:171292797-171556788)x3	FBXW11, STK10	Copy number gain	not provided	GUncertain significance
Select item 790024	NM_005990.4(STK10):c.486C>T (p.Asn162=)	STK10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788528	NM_005990.4(STK10):c.2652+6G>C	STK10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783623	NM_005990.4(STK10):c.1559C>T (p.Pro520Leu)	STK10 (P520L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771389	NM_005990.4(STK10):c.1180C>G (p.Pro394Ala)	STK10 (P394A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769673	NM_005990.4(STK10):c.351C>T (p.Ala117=)	STK10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757341	NM_005990.4(STK10):c.1551C>A (p.Ile517=)	STK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757340	NM_005990.4(STK10):c.2757G>A (p.Pro919=)	STK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684881	GRCh37/hg19 5q35.1(chr5:171171671-172022583)x1	STK10, UBTD2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 226164	GRCh37/hg19 5q35.1(chr5:171395554-171508587)	STK10, FBXW11	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 86