CARHSP1[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	ABAT, CARHSP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58248	GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1	ABAT, CARHSP1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 57446	GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1	ABAT, CARHSP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 59954	GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3	CARHSP1, CARHSP1-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 2465589	NM_014316.4(CARHSP1):c.408G>C (p.Lys136Asn)	CARHSP1, LOC100130283 (K136N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204063	NM_014316.4(CARHSP1):c.338C>T (p.Ser113Phe)	LOC100130283, CARHSP1 (S113F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544266	NM_014316.4(CARHSP1):c.305T>C (p.Val102Ala)	CARHSP1, LOC100130283 (V102A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408700	NM_014316.4(CARHSP1):c.253G>A (p.Gly85Ser)	CARHSP1, LOC100130283 (G85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353547	NM_014316.4(CARHSP1):c.248A>T (p.Asp83Val)	LOC100130283, CARHSP1 (D83V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557411	NM_014316.4(CARHSP1):c.239C>A (p.Thr80Asn)	CARHSP1, LOC100130283 (T80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507890	NM_014316.4(CARHSP1):c.184G>T (p.Val62Phe)	CARHSP1, LOC100130283 (V62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589147	NM_014316.4(CARHSP1):c.176A>G (p.Gln59Arg)	CARHSP1, LOC100130283 (Q59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557472	NM_014316.4(CARHSP1):c.167G>T (p.Arg56Leu)	CARHSP1, LOC100130283 (R56L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454445	NM_014316.4(CARHSP1):c.161C>T (p.Thr54Met)	CARHSP1, LOC100130283 (T54M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295999	NM_014316.4(CARHSP1):c.155C>T (p.Ser52Leu)	CARHSP1, LOC100130283 (S52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646183	NM_014316.4(CARHSP1):c.150C>G (p.Thr50=)	CARHSP1, LOC100130283	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2458969	NM_014316.4(CARHSP1):c.112G>A (p.Val38Met)	CARHSP1, LOC100130283 (V38M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599606	NM_014316.4(CARHSP1):c.86G>A (p.Arg29His)	CARHSP1, LOC100130283 (R29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290796	NM_014316.4(CARHSP1):c.77G>A (p.Ser26Asn)	LOC100130283, CARHSP1 (S26N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507747	NM_014316.4(CARHSP1):c.74G>A (p.Arg25Gln)	CARHSP1, LOC100130283 (R25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622955	NM_014316.4(CARHSP1):c.73C>G (p.Arg25Gly)	CARHSP1, LOC100130283 (R25G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607749	NM_014316.4(CARHSP1):c.68C>G (p.Thr23Ser)	CARHSP1, LOC100130283 (T23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063402	GRCh37/hg19 16p13.2(chr16:8772448-8949474)x1	ABAT, CARHSP1 +2 more	Copy number loss	not specified	GPathogenic
Select item 2684782	GRCh37/hg19 16p13.2(chr16:8922659-9123395)x3	CARHSP1, PMM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684781	GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3	ABAT, CARHSP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2500242	NC_000016.9:g.(?_8160554)_(9074348_?)del	ABAT, CARHSP1 +5 more	Deletion	Hao-Fountain syndrome	GPathogenic
Select item 2426572	NC_000016.9:g.(?_8851594)_(9017290_?)del	ABAT, CARHSP1 +3 more	Deletion	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2424680	NC_000016.9:g.(?_8873316)_(8998442_?)dup	ABAT, CARHSP1 +3 more	Duplication	not provided	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1808960	GRCh37/hg19 16p13.2(chr16:8728709-8959355)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703617	GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)	ABAT, CARHSP1 +8 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GLikely pathogenic
Select item 1526498	GRCh37/hg19 16p13.2(chr16:8959375-9332816)	HAPSTR1, USP7 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526497	GRCh37/hg19 16p13.2(chr16:8899897-9050878)	CARHSP1, PMM2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526494	GRCh37/hg19 16p13.2(chr16:8862211-9287762)	TMEM186, USP7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526493	GRCh37/hg19 16p13.2(chr16:8850768-9216009)	ABAT, CARHSP1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526492	GRCh37/hg19 16p13.2(chr16:8727589-9041590)	PMM2, TMEM186 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	PRM3, TEKT5 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1321999	GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3	ABAT, C16orf72 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1177500	GRCh37/hg19 16p13.2(chr16:8807079-9045027)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	Gnot provided
Select item 1003189	NC_000016.9:g.(?_8829577)_(10274288_?)dup	HAPSTR1, ABAT +5 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 983161	GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3	ABAT, METTL22 +5 more	Copy number gain	See cases	GUncertain significance
Select item 980568	GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3	TMEM114, PMM2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980566	GRCh37/hg19 16p13.2(chr16:8958907-9232888)x3	CARHSP1, C16orf72 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980565	GRCh37/hg19 16p13.2(chr16:8899460-10058650)x3	USP7, PMM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 831382	NC_000016.10:g.(?_8735720)_(10180431_?)dup	ABAT, HAPSTR1 +5 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 815788	GRCh37/hg19 16p13.2(chr16:8943900-9206744)x3	USP7, CARHSP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815787	GRCh37/hg19 16p13.2(chr16:8795855-9015505)x3	TMEM186, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815786	GRCh37/hg19 16p13.2(chr16:8776408-8950829)x1	PMM2, CARHSP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815785	GRCh37/hg19 16p13.2(chr16:8759826-8992656)x3	PMM2, ABAT +3 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689281	GRCh37/hg19 16p13.2(chr16:8800618-9302688)x3	ABAT, CARHSP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688430	GRCh37/hg19 16p13.2(chr16:8913120-9199036)x3	CARHSP1, HAPSTR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688057	GRCh37/hg19 16p13.2(chr16:8837843-9157022)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686851	GRCh37/hg19 16p13.2(chr16:8821978-8959376)x3	ABAT, CARHSP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686838	GRCh37/hg19 16p13.2(chr16:8899460-9205868)x3	CARHSP1, HAPSTR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686771	GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4	ABAT, CARHSP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686434	GRCh37/hg19 16p13.2(chr16:8763909-9274576)x3	ABAT, CARHSP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686338	GRCh37/hg19 16p13.2(chr16:8797797-8992828)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686170	GRCh37/hg19 16p13.2(chr16:8941963-9166296)x3	CARHSP1, PMM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685241	GRCh37/hg19 16p13.2(chr16:8884484-8992578)x3	CARHSP1, PMM2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 684969	GRCh37/hg19 16p13.2(chr16:8913113-9250159)x3	CARHSP1, HAPSTR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625567	GRCh37/hg19 16p13.2(chr16:8839796-9728670)	ABAT, C16orf72 +4 more	Copy number loss	not provided	GPathogenic
Select item 564268	GRCh37/hg19 16p13.2(chr16:8797797-9558289)x3	CARHSP1, TMEM186 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443867	GRCh37/hg19 16p13.2(chr16:8836233-9454914)x3	ABAT, C16orf72 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253715	GRCh37/hg19 16p13.2(chr16:8875248-9211047)x3	ABAT, USP7 +4 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 89