INHBA[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 146580	GRCh38/hg38 7p14.1(chr7:41084766-42566517)x1	GLI3, INHBA +20 more	Copy number loss	See cases	GPathogenic
Select item 146653	GRCh38/hg38 7p14.1(chr7:41581600-41694692)x1	INHBA, INHBA-AS1 +1 more	Copy number loss	See cases	GBenign
Select item 2481429	NM_002192.4(INHBA):c.1257C>G (p.Ile419Met)	INHBA (I419M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381291	NM_002192.4(INHBA):c.1184A>G (p.Lys395Arg)	INHBA (K395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325109	NM_002192.4(INHBA):c.1064C>T (p.Pro355Leu)	INHBA (P355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585077	NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp)	INHBA (C350W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2395861	NM_002192.4(INHBA):c.952G>A (p.Val318Ile)	INHBA (V318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109677	NM_002192.4(INHBA):c.916C>G (p.Arg306Gly)	INHBA (R306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609084	NM_002192.4(INHBA):c.901G>C (p.Glu301Gln)	INHBA (E301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612747	NM_002192.4(INHBA):c.871C>T (p.Pro291Ser)	INHBA (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109676	NM_002192.4(INHBA):c.829G>A (p.Gly277Ser)	INHBA (G277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109675	NM_002192.4(INHBA):c.573G>C (p.Glu191Asp)	INHBA (E191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109674	NM_002192.4(INHBA):c.404C>T (p.Thr135Met)	INHBA (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538850	NM_002192.4(INHBA):c.403A>G (p.Thr135Ala)	INHBA (T135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405764	NM_002192.4(INHBA):c.232G>A (p.Val78Ile)	INHBA, INHBA-AS1 (V78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1459507	NC_000007.13:g.(?_39726267)_(42262852_?)del	CDK13, GLI3 +4 more	Deletion	Pallister-Hall syndrome +1 more	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 813836	GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1	GLI3, INHBA	Copy number loss	Greig cephalopolysyndactyly syndrome	GPathogenic
Select item 688390	GRCh37/hg19 7p14.1(chr7:40198215-43252984)x3	C7orf25, GLI3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 42