15830[HGNC] - ClinVar

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Items: 59

	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 768250	NM_001142462.3(OSR2):c.-19A>C	OSR2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3207192	NM_001142462.3(OSR2):c.139C>G (p.Gln47Glu)	OSR2 (Q47E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224325	NM_001142462.3(OSR2):c.245G>A (p.Arg82His)	OSR2 (R203H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293307	NM_001142462.3(OSR2):c.257C>A (p.Pro86Gln)	OSR2 (P207Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343815	NM_001142462.3(OSR2):c.313G>A (p.Val105Ile)	OSR2 (V105I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207193	NM_001142462.3(OSR2):c.329A>G (p.His110Arg)	OSR2 (H110R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713270	NM_001142462.3(OSR2):c.390G>C (p.Pro130=)	OSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257705	NM_001142462.3(OSR2):c.404A>G (p.Asp135Gly)	OSR2 (D135G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207194	NM_001142462.3(OSR2):c.475C>T (p.Pro159Ser)	OSR2 (P159S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303621	NM_001142462.3(OSR2):c.854G>A (p.Ser285Asn)	OSR2 (A258T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303622	NM_001142462.3(OSR2):c.858C>T (p.Cys286=)	OSR2 (A211V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3303623	NM_001142462.3(OSR2):c.863A>G (p.Gln288Arg)	OSR2 (Q409R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303624	NM_001142462.3(OSR2):c.897G>A (p.Leu299=)	OSR2 (C224Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2281790	NM_001142462.3(OSR2):c.902G>A (p.Arg301Gln)	OSR2 (G226S +3 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 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 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: 59