STK16[gene] - ClinVar

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Items: 56

	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 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 2326320	NM_001330213.2(STK16):c.77T>G (p.Leu26Arg)	STK16 (L26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323281	NM_001330213.2(STK16):c.95G>A (p.Ser32Asn)	STK16 (S32N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307788	NM_001330213.2(STK16):c.115G>T (p.Gly39Trp)	STK16 (G39W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171274	NM_001330213.2(STK16):c.191G>A (p.Arg64Gln)	STK16 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546134	NM_001330213.2(STK16):c.205C>T (p.His69Tyr)	STK16 (H69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171275	NM_001330213.2(STK16):c.229A>G (p.Ile77Val)	STK16 (I77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563043	NM_001330213.2(STK16):c.235C>T (p.Arg79Cys)	STK16 (R79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241723	NM_001330213.2(STK16):c.236G>A (p.Arg79His)	STK16 (R79H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509139	NM_001330213.2(STK16):c.266G>T (p.Gly89Val)	STK16 (G89V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354056	NM_001330213.2(STK16):c.338T>A (p.Leu113Gln)	STK16 (L113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246658	NM_001330213.2(STK16):c.359T>C (p.Leu120Pro)	STK16 (L120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171276	NM_001330213.2(STK16):c.379T>C (p.Trp127Arg)	STK16 (W127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171277	NM_001330213.2(STK16):c.467T>C (p.Leu156Pro)	STK16 (L38P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171278	NM_001330213.2(STK16):c.577C>T (p.Arg193Trp)	STK16 (R193W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597471	NM_001330213.2(STK16):c.596G>A (p.Arg199Gln)	STK16 (R81Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171279	NM_001330213.2(STK16):c.643C>T (p.Arg215Trp)	STK16 (R215W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171280	NM_001330213.2(STK16):c.682A>G (p.Met228Val)	STK16 (M110V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205646	NM_001330213.2(STK16):c.709A>G (p.Met237Val)	STK16 (M119V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594355	NM_001330213.2(STK16):c.712G>C (p.Val238Leu)	STK16 (V206L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513617	NM_001330213.2(STK16):c.772A>G (p.Ser258Gly)	STK16 (S258G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619552	NM_001330213.2(STK16):c.788C>T (p.Ser263Leu)	STK16 (S231L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411614	NM_001330213.2(STK16):c.823G>A (p.Val275Met)	STK16 (V243M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227287	NM_006000.3(TUBA4A):c.*48G>A	STK16, TUBA4A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	DES, DNAJB2 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 56