1355[HGNC] - ClinVar

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Items: 71

	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 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 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 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	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 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	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 2337516	NM_001126111.3(OSGIN2):c.7G>C (p.Val3Leu)	LOC130000712, OSGIN2 (V3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658680	NM_001126111.3(OSGIN2):c.57C>T (p.Asp19=)	OSGIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3303607	NM_001126111.3(OSGIN2):c.227C>G (p.Ser76Cys)	OSGIN2 (S76C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207158	NM_001126111.3(OSGIN2):c.250C>T (p.Pro84Ser)	OSGIN2 (P84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303605	NM_001126111.3(OSGIN2):c.308A>C (p.Glu103Ala)	OSGIN2 (E103A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784133	NM_001126111.3(OSGIN2):c.489C>T (p.His163=)	OSGIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 583872	NC_000008.11:g.(?_89921080)_(89984561_?)del	LOC126860438, LOC130000714 +2 more	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3303606	NM_001126111.3(OSGIN2):c.590A>C (p.Lys197Thr)	OSGIN2 (K197T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207159	NM_001126111.3(OSGIN2):c.662G>A (p.Arg221His)	OSGIN2 (R177H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357176	NM_001126111.3(OSGIN2):c.733G>A (p.Val245Ile)	OSGIN2 (V245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359021	NM_001126111.3(OSGIN2):c.783T>A (p.Asp261Glu)	OSGIN2 (D261E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465878	NM_001126111.3(OSGIN2):c.819C>A (p.Asn273Lys)	OSGIN2 (N229K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465879	NM_001126111.3(OSGIN2):c.826A>C (p.Lys276Gln)	OSGIN2 (K276Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207160	NM_001126111.3(OSGIN2):c.827A>G (p.Lys276Arg)	OSGIN2 (K232R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212025	NM_001126111.3(OSGIN2):c.828G>C (p.Lys276Asn)	OSGIN2 (K232N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207161	NM_001126111.3(OSGIN2):c.857G>A (p.Arg286Gln)	OSGIN2 (R242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361579	NM_001126111.3(OSGIN2):c.954A>C (p.Glu318Asp)	OSGIN2 (E274D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371592	NM_001126111.3(OSGIN2):c.985A>G (p.Met329Val)	OSGIN2 (M285V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598495	NM_001126111.3(OSGIN2):c.1018A>C (p.Lys340Gln)	OSGIN2 (K296Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623725	NM_001126111.3(OSGIN2):c.1024C>T (p.Arg342Cys)	OSGIN2 (R298C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303608	NM_001126111.3(OSGIN2):c.1051G>T (p.Val351Leu)	OSGIN2 (V351L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477008	NM_001126111.3(OSGIN2):c.1072G>A (p.Ala358Thr)	OSGIN2 (A314T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713505	NM_001126111.3(OSGIN2):c.1088G>C (p.Cys363Ser)	OSGIN2 (C319S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2658681	NM_001126111.3(OSGIN2):c.1246T>C (p.Leu416=)	OSGIN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3207156	NM_001126111.3(OSGIN2):c.1300A>G (p.Met434Val)	OSGIN2 (M390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268541	NM_001126111.3(OSGIN2):c.1301T>C (p.Met434Thr)	OSGIN2 (M434T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481798	NM_001126111.3(OSGIN2):c.1342T>C (p.Phe448Leu)	OSGIN2 (F404L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299311	NM_001126111.3(OSGIN2):c.1342T>A (p.Phe448Ile)	OSGIN2 (F404I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306700	NM_001126111.3(OSGIN2):c.1361T>C (p.Val454Ala)	OSGIN2 (V454A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268542	NM_001126111.3(OSGIN2):c.1402G>A (p.Asp468Asn)	OSGIN2 (D468N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207157	NM_001126111.3(OSGIN2):c.1546C>G (p.Arg516Gly)	OSGIN2 (R516G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221496	NM_001126111.3(OSGIN2):c.1580G>A (p.Arg527His)	OSGIN2 (R483H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
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 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
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 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	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 1527453	GRCh37/hg19 8q21.3(chr8:90742314-91017575)	DECR1, NBN +2 more	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 979842	GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3	NBN, OSGIN2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 816526	GRCh37/hg19 8q21.3(chr8:90758337-91556317)x3	OSGIN2, NBN +3 more	Copy number gain	See cases	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 443390	GRCh37/hg19 8q21.3(chr8:90717375-91029121)x1	DECR1, NBN +2 more	Copy number loss	See cases	GUncertain significance
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 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
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: 71