11406[HGNC] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 3287748	NM_020697.4(KCNS2):c.7G>C (p.Gly3Arg)	KCNS2, STK3 (G3R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471129	NM_020697.4(KCNS2):c.19T>C (p.Trp7Arg)	KCNS2, STK3 (W7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113494	NM_020697.4(KCNS2):c.58C>T (p.Arg20Cys)	KCNS2, STK3 (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331340	NM_020697.4(KCNS2):c.122C>T (p.Thr41Met)	KCNS2, STK3 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332156	NM_020697.4(KCNS2):c.383T>C (p.Val128Ala)	KCNS2, STK3 (V128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494544	NM_020697.4(KCNS2):c.487G>A (p.Gly163Arg)	KCNS2, STK3 (G163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284189	NM_020697.4(KCNS2):c.541G>A (p.Gly181Ser)	KCNS2, STK3 (G181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113495	NM_020697.4(KCNS2):c.611T>C (p.Met204Thr)	KCNS2, STK3 (M204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337418	NM_020697.4(KCNS2):c.661C>T (p.Pro221Ser)	KCNS2, STK3 (P221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113496	NM_020697.4(KCNS2):c.671A>G (p.Asp224Gly)	KCNS2, STK3 (D224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463435	NM_020697.4(KCNS2):c.757C>G (p.Leu253Val)	KCNS2, STK3 (L253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723919	NM_020697.4(KCNS2):c.805G>A (p.Val269Ile)	KCNS2, STK3 (V269I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3287747	NM_020697.4(KCNS2):c.817A>G (p.Ile273Val)	KCNS2, STK3 (I273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113497	NM_020697.4(KCNS2):c.853C>A (p.Pro285Thr)	KCNS2, STK3 (P285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787330	NM_020697.4(KCNS2):c.901C>A (p.Arg301=)	KCNS2, STK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113498	NM_020697.4(KCNS2):c.946C>T (p.Arg316Cys)	KCNS2, STK3 (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113491	NM_020697.4(KCNS2):c.1088C>T (p.Ala363Val)	KCNS2, STK3 (A363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113492	NM_020697.4(KCNS2):c.1154C>G (p.Thr385Arg)	KCNS2, STK3 (T385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554166	NM_020697.4(KCNS2):c.1237T>C (p.Phe413Leu)	KCNS2, STK3 (F413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385249	NM_020697.4(KCNS2):c.1253G>A (p.Arg418Gln)	KCNS2, STK3 (R418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356115	NM_020697.4(KCNS2):c.1282C>T (p.Arg428Cys)	KCNS2, STK3 (R428C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113493	NM_020697.4(KCNS2):c.1303G>A (p.Gly435Arg)	KCNS2, STK3 (G435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216923	NM_020697.4(KCNS2):c.1338C>G (p.Asp446Glu)	KCNS2, STK3 (D446E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171322	NM_006281.4(STK3):c.1469A>G (p.Asn490Ser)	STK3 (N490S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171321	NM_006281.4(STK3):c.1282A>T (p.Asn428Tyr)	STK3 (N428Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412274	NM_006281.4(STK3):c.1281T>A (p.Asp427Glu)	STK3 (D316E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282346	NM_006281.4(STK3):c.1253T>G (p.Phe418Cys)	STK3 (F307C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278541	NM_006281.4(STK3):c.1242G>T (p.Met414Ile)	STK3 (M303I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171320	NM_006281.4(STK3):c.1234C>A (p.Gln412Lys)	STK3 (Q440K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327877	NM_006281.4(STK3):c.1124A>G (p.Glu375Gly)	STK3 (E264G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460763	NM_006281.4(STK3):c.1052T>C (p.Ile351Thr)	STK3 (I351T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405551	NM_006281.4(STK3):c.1048A>G (p.Met350Val)	STK3 (M378V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544910	NM_006281.4(STK3):c.947C>T (p.Ser316Leu)	STK3 (S316L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171324	NM_006281.4(STK3):c.906T>G (p.His302Gln)	STK3 (H302Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544340	NM_006281.4(STK3):c.902G>A (p.Arg301Lys)	STK3 (R190K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396653	NM_006281.4(STK3):c.857T>C (p.Ile286Thr)	STK3 (I175T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288699	NM_006281.4(STK3):c.853T>C (p.Ser285Pro)	STK3 (S285P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323295	NM_006281.4(STK3):c.746A>G (p.Asp249Gly)	STK3 (D249G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210062	NM_006281.4(STK3):c.745G>A (p.Asp249Asn)	STK3 (D249N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323293	NM_006281.4(STK3):c.652A>C (p.Lys218Gln)	STK3 (K218Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351878	NM_006281.4(STK3):c.640A>G (p.Met214Val)	STK3 (M214V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171323	NM_006281.4(STK3):c.418A>G (p.Met140Val)	STK3 (M168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323294	NM_006281.4(STK3):c.317C>G (p.Ser106Cys)	STK3 (S106C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245482	NC_000008.10:g.(?_99346108)_(100589843_?)del	KCNS2, OSR2 +2 more	Deletion	Cohen syndrome	GPathogenic
Select item 3245432	NC_000008.10:g.(?_99594279)_(100513908_?)del	OSR2, STK3 +1 more	Deletion	Cohen syndrome	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685317	GRCh37/hg19 8q22.2(chr8:99696998-100138056)x1	OSR2, STK3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 1809297	GRCh37/hg19 8q22.2(chr8:99257391-99467206)x3	KCNS2, NIPAL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808358	GRCh37/hg19 8q22.2(chr8:99132556-100021840)x3	KCNS2, NIPAL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807578	GRCh37/hg19 8q22.2(chr8:99681017-100059441)x3	OSR2, STK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527455	GRCh37/hg19 8q22.2(chr8:99834003-100199851)	OSR2, STK3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527454	GRCh37/hg19 8q22.2(chr8:99735761-99772486)	STK3	Copy number loss	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, ATP6V1C1 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 1447941	NC_000008.10:g.(?_99135566)_(100205305_?)dup	KCNS2, NIPAL2 +4 more	Duplication	Cohen syndrome	GUncertain significance
Select item 689220	GRCh37/hg19 8q22.2(chr8:99501354-100350153)x3	OSR2, STK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688443	GRCh37/hg19 8q22.2(chr8:99681689-100173606)x3	OSR2, STK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 395255	GRCh37/hg19 8q22.2(chr8:99816841-100523891)x1	OSR2, STK3 +1 more	Copy number loss	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 90