26542[HGNC] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 150848	GRCh38/hg38 10p12.1(chr10:27729990-28399765)x4	LOC124403925, LOC126860890 +17 more	Copy number gain	See cases	GUncertain significance
Select item 59700	GRCh38/hg38 10p12.1-11.23(chr10:27767970-30046085)x3	BAMBI, C10orf126 +49 more	Copy number gain	See cases	GPathogenic
Select item 3295737	NM_001318170.2(MPP7):c.1724A>G (p.His575Arg)	MPP7 (H575R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202989	NM_001318170.2(MPP7):c.1705G>T (p.Val569Leu)	MPP7 (V569L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295735	NM_001318170.2(MPP7):c.1687G>C (p.Glu563Gln)	MPP7 (E563Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512006	NM_001318170.2(MPP7):c.1514C>T (p.Ser505Leu)	MPP7 (S505L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202975	NM_001318170.2(MPP7):c.1474G>C (p.Glu492Gln)	MPP7 (E492Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202970	NM_001318170.2(MPP7):c.1462C>T (p.Pro488Ser)	MPP7 (P488S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202966	NM_001318170.2(MPP7):c.1377C>G (p.Asn459Lys)	MPP7 (N459K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384350	NM_001318170.2(MPP7):c.1358G>A (p.Arg453Gln)	MPP7 (R453Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216980	NM_001318170.2(MPP7):c.1357C>T (p.Arg453Trp)	MPP7 (R453W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345663	NM_001318170.2(MPP7):c.1340C>T (p.Thr447Ile)	MPP7 (T447I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303458	NM_001318170.2(MPP7):c.1312G>A (p.Gly438Arg)	MPP7 (G438R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295736	NM_001318170.2(MPP7):c.1308A>C (p.Glu436Asp)	MPP7 (E436D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207901	NM_001318170.2(MPP7):c.1292A>G (p.Asn431Ser)	MPP7 (N431S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265133	NM_001318170.2(MPP7):c.1243G>C (p.Val415Leu)	MPP7 (V415L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261728	NM_001318170.2(MPP7):c.1237G>A (p.Asp413Asn)	MPP7 (D413N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401436	NM_001318170.2(MPP7):c.1129G>A (p.Val377Met)	MPP7 (V377M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295733	NM_001318170.2(MPP7):c.1094A>G (p.Asn365Ser)	LOC126860892, MPP7 (N365S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263812	NM_001318170.2(MPP7):c.1063G>A (p.Glu355Lys)	LOC126860892, MPP7 (E355K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295732	NM_001318170.2(MPP7):c.1006T>C (p.Ser336Pro)	LOC126860892, MPP7 (S336P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277003	NM_001318170.2(MPP7):c.977T>G (p.Leu326Arg)	LOC126860892, MPP7 (L326R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203050	NM_001318170.2(MPP7):c.974G>A (p.Arg325His)	LOC126860892, MPP7 (R325H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605842	NM_001318170.2(MPP7):c.964A>C (p.Lys322Gln)	LOC126860892, MPP7 (K322Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378292	NM_001318170.2(MPP7):c.916T>A (p.Leu306Met)	LOC126860893, MPP7 (L306M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391924	NM_001318170.2(MPP7):c.905G>A (p.Arg302Gln)	LOC126860893, MPP7 (R302Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295738	NM_001318170.2(MPP7):c.869C>T (p.Ser290Leu)	LOC126860893, MPP7 (S290L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239621	NM_001318170.2(MPP7):c.864C>G (p.Ile288Met)	LOC126860893, MPP7 (I288M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203039	NM_001318170.2(MPP7):c.838G>A (p.Asp280Asn)	LOC126860893, MPP7 (D280N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494867	NM_001318170.2(MPP7):c.797G>A (p.Ser266Asn)	LOC126860893, MPP7 (S266N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590484	NM_001318170.2(MPP7):c.716A>T (p.Tyr239Phe)	LOC126860893, MPP7 (Y239F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268755	NM_001318170.2(MPP7):c.659G>A (p.Ser220Asn)	MPP7 (S220N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493866	NM_001318170.2(MPP7):c.647T>C (p.Ile216Thr)	MPP7 (I216T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220986	NM_001318170.2(MPP7):c.632C>T (p.Ala211Val)	MPP7 (A211V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220985	NM_001318170.2(MPP7):c.631G>C (p.Ala211Pro)	MPP7 (A211P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222059	NM_001318170.2(MPP7):c.592C>G (p.Pro198Ala)	MPP7 (P198A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203012	NM_001318170.2(MPP7):c.508G>C (p.Gly170Arg)	MPP7 (G170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211327	NM_001318170.2(MPP7):c.376A>G (p.Met126Val)	MPP7 (M126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203006	NM_001318170.2(MPP7):c.362C>G (p.Pro121Arg)	MPP7 (P121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640382	NM_001318170.2(MPP7):c.357C>T (p.Tyr119=)	MPP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779260	NM_001318170.2(MPP7):c.316G>A (p.Ala106Thr)	MPP7 (A106T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3295739	NM_001318170.2(MPP7):c.308A>G (p.Asn103Ser)	MPP7 (N103S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2390807	NM_001318170.2(MPP7):c.232G>A (p.Asp78Asn)	MPP7 (D78N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202997	NM_001318170.2(MPP7):c.208C>T (p.His70Tyr)	MPP7 (H70Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274535	NM_001318170.2(MPP7):c.205C>T (p.Leu69Phe)	MPP7 (L69F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297419	NM_001318170.2(MPP7):c.194C>T (p.Pro65Leu)	MPP7 (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400677	NM_001318170.2(MPP7):c.161A>T (p.His54Leu)	MPP7 (H54L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203009	NM_001318170.2(MPP7):c.46G>A (p.Glu16Lys)	MPP7 (E16K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202986	NM_001318170.2(MPP7):c.16A>G (p.Thr6Ala)	MPP7 (T6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	ABI1, ACBD5 +9 more	Duplication	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1340583	GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1	ACBD5, ANKRD26 +9 more	Copy number loss	not provided	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980365	GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1	MASTL, MKX +7 more	Copy number loss	not provided	GUncertain significance
Select item 815325	GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3	MKX, RAB18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687918	GRCh37/hg19 10p12.1(chr10:28400603-28471614)x3	MPP7	Copy number gain	not provided	GUncertain significance
Select item 686529	GRCh37/hg19 10p12.1(chr10:28415411-28567868)x1	MPP7	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 68