11787[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2291715	NM_007112.5(THBS3):c.2843G>A (p.Arg948Gln)	THBS3, THBS3-AS1 (R1005Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325877	NM_007112.5(THBS3):c.2842C>T (p.Arg948Trp)	THBS3, THBS3-AS1 (R659W +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241419	NM_007112.5(THBS3):c.2799G>C (p.Gln933His)	THBS3, THBS3-AS1 (Q678H +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595154	NM_007112.5(THBS3):c.2723T>C (p.Ile908Thr)	THBS3, THBS3-AS1 (I833T +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535103	NM_007112.5(THBS3):c.2674G>A (p.Val892Met)	THBS3, THBS3-AS1 (V603M +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209136	NM_007112.5(THBS3):c.2632C>T (p.Arg878Cys)	THBS3, THBS3-AS1 (R881C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325872	NM_007112.5(THBS3):c.2615G>A (p.Arg872Gln)	THBS3, THBS3-AS1 (R752Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325880	NM_007112.5(THBS3):c.2587T>C (p.Trp863Arg)	THBS3, THBS3-AS1 (W825R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176992	NM_007112.5(THBS3):c.2579G>A (p.Arg860Gln)	THBS3, THBS3-AS1 (R830Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176991	NM_007112.5(THBS3):c.2503G>C (p.Val835Leu)	THBS3, THBS3-AS1 (V656L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325937	NM_007112.5(THBS3):c.2477C>T (p.Ala826Val)	THBS3, THBS3-AS1 (A537V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268872	NM_007112.5(THBS3):c.2416G>A (p.Val806Ile)	THBS3, THBS3-AS1 (V686I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614336	NM_007112.5(THBS3):c.2407C>A (p.Arg803Ser)	THBS3, THBS3-AS1 (R624S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325873	NM_007112.5(THBS3):c.2240T>C (p.Val747Ala)	THBS3, THBS3-AS1 (V627A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176989	NM_007112.5(THBS3):c.2230C>G (p.Pro744Ala)	THBS3, THBS3-AS1 (P455A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176988	NM_007112.5(THBS3):c.2197G>A (p.Val733Ile)	THBS3, THBS3-AS1 (V478I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213815	NM_007112.5(THBS3):c.2182G>T (p.Ala728Ser)	THBS3, THBS3-AS1 (A608S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544684	NM_007112.5(THBS3):c.2128G>C (p.Asp710His)	THBS3, THBS3-AS1 (D531H +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176987	NM_007112.5(THBS3):c.2083G>A (p.Val695Ile)	THBS3, THBS3-AS1 (V406I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176986	NM_007112.5(THBS3):c.2075G>A (p.Gly692Asp)	THBS3, THBS3-AS1 (G403D +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176985	NM_007112.5(THBS3):c.2039G>A (p.Arg680His)	THBS3, THBS3-AS1 (R560H +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2471294	NM_007112.5(THBS3):c.1945G>A (p.Asp649Asn)	THBS3, THBS3-AS1 (D652N +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3176984	NM_007112.5(THBS3):c.1815C>A (p.Ser605Arg)	THBS3, THBS3-AS1 (S350R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176982	NM_007112.5(THBS3):c.1758G>C (p.Gln586His)	THBS3, THBS3-AS1 (Q407H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176981	NM_007112.5(THBS3):c.1718A>G (p.Asn573Ser)	THBS3, THBS3-AS1 (N284S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313441	NM_007112.5(THBS3):c.1696G>A (p.Val566Met)	THBS3, THBS3-AS1 (V446M +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176979	NM_007112.5(THBS3):c.1642A>G (p.Asn548Asp)	THBS3, THBS3-AS1 (N259D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342771	NM_007112.5(THBS3):c.1487A>G (p.Asn496Ser)	THBS3, THBS3-AS1 (N207S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161656	NM_007112.5(THBS3):c.1440G>T (p.Gln480His)	THBS3, THBS3-AS1 (Q480H +2 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2349609	NM_007112.5(THBS3):c.1412G>A (p.Cys471Tyr)	THBS3, THBS3-AS1 (C351Y +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393021	NM_007112.5(THBS3):c.1307G>A (p.Arg436His)	THBS3, THBS3-AS1 (R181H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207850	NM_007112.5(THBS3):c.1243G>A (p.Ala415Thr)	THBS3, THBS3-AS1 (A126T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049354	NM_007112.5(THBS3):c.1190G>A (p.Cys397Tyr)	THBS3, THBS3-AS1 (C277Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2310873	NM_007112.5(THBS3):c.1063G>C (p.Gly355Arg)	THBS3, THBS3-AS1 (G100R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176977	NM_007112.5(THBS3):c.1040G>A (p.Gly347Glu)	THBS3, THBS3-AS1 (G168E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176996	NM_007112.5(THBS3):c.967G>A (p.Ala323Thr)	THBS3, THBS3-AS1 (A293T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325874	NM_007112.5(THBS3):c.946G>A (p.Asp316Asn)	THBS3, THBS3-AS1 (D196N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474175	NM_007112.5(THBS3):c.910C>T (p.Pro304Ser)	THBS3, THBS3-AS1 (P125S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404421	NM_007112.5(THBS3):c.896G>A (p.Arg299His)	THBS3, THBS3-AS1 (R261H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325881	NM_007112.5(THBS3):c.824G>A (p.Arg275His)	THBS3, THBS3-AS1 (R20H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176995	NM_007112.5(THBS3):c.803T>C (p.Val268Ala)	THBS3, THBS3-AS1 (V268A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325878	NM_007112.5(THBS3):c.752A>C (p.Asp251Ala)	THBS3, THBS3-AS1 (D213A +5 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3325876	NM_007112.5(THBS3):c.737G>A (p.Arg246Gln)	THBS3, THBS3-AS1 (R303Q +5 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2266655	NM_007112.5(THBS3):c.730G>A (p.Glu244Lys)	THBS3, THBS3-AS1 (E124K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262986	NM_007112.5(THBS3):c.727G>A (p.Val243Met)	THBS3, THBS3-AS1 (V123M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614985	NM_007112.5(THBS3):c.649A>G (p.Thr217Ala)	THBS3, THBS3-AS1 (T179A +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2258523	NM_007112.5(THBS3):c.637C>T (p.His213Tyr)	THBS3, THBS3-AS1 (H213Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335967	NM_007112.5(THBS3):c.622G>A (p.Gly208Arg)	THBS3, THBS3-AS1 (G170R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176993	NM_007112.5(THBS3):c.490G>A (p.Glu164Lys)	THBS3, THBS3-AS1 (E126K +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2258948	NM_007112.5(THBS3):c.424T>C (p.Tyr142His)	THBS3, THBS3-AS1 (Y199H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325879	NM_007112.5(THBS3):c.408C>A (p.Ser136Arg)	THBS3, THBS3-AS1 (S193R +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2388269	NM_007112.5(THBS3):c.259G>A (p.Ala87Thr)	THBS3 (A144T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510212	NM_007112.5(THBS3):c.245C>T (p.Thr82Ile)	THBS3 (T139I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328171	NM_007112.5(THBS3):c.240C>G (p.Asp80Glu)	THBS3 (D137E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399479	NM_007112.5(THBS3):c.232C>T (p.Arg78Cys)	THBS3 (R135C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176990	NM_007112.5(THBS3):c.227A>G (p.Tyr76Cys)	THBS3 (Y133C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176980	NM_007112.5(THBS3):c.166A>T (p.Ile56Phe)	THBS3 (I56F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176978	NM_007112.5(THBS3):c.140G>C (p.Arg47Pro)	THBS3 (R104P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2639396	NM_007112.5(THBS3):c.126G>C (p.Val42=)	THBS3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2487136	NM_007112.5(THBS3):c.107C>T (p.Ser36Phe)	THBS3 (S36F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325875	NM_007112.5(THBS3):c.85G>A (p.Asp29Asn)	THBS3 (D29N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216188	NM_007112.5(THBS3):c.22G>T (p.Gly8Trp)	THBS3 (G8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296813	NM_002455.5(MTX1):c.60G>T (p.Trp20Cys)	MTX1, THBS3 (W20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218696	NM_002455.5(MTX1):c.113G>T (p.Arg38Leu)	MTX1, THBS3 (R38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541254	NM_002455.5(MTX1):c.158G>A (p.Arg53Gln)	MTX1, THBS3 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767706	NM_002455.5(MTX1):c.187T>A (p.Ser63Thr)	MTX1, THBS3 (S63T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3218706	NM_002455.5(MTX1):c.212C>G (p.Ala71Gly)	MTX1, THBS3 (A71G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483170	NM_002455.5(MTX1):c.253C>T (p.Pro85Ser)	LOC129931558, MTX1 +1 more (P85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331727	NM_002455.5(MTX1):c.287G>A (p.Arg96His)	LOC129931558, MTX1 +1 more (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218714	NM_002455.5(MTX1):c.302G>A (p.Ser101Asn)	LOC129931558, MTX1 +1 more (S101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218717	NM_002455.5(MTX1):c.326C>T (p.Ser109Phe)	LOC129931558, MTX1 +1 more (S109F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345022	NM_002455.5(MTX1):c.328C>A (p.Pro110Thr)	LOC129931558, MTX1 +1 more (P110T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218721	NM_002455.5(MTX1):c.344G>A (p.Gly115Asp)	LOC129931558, MTX1 +1 more (G115D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207998	NM_002455.5(MTX1):c.350T>C (p.Leu117Pro)	LOC129931558, MTX1 +1 more (L117P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391376	NM_002455.5(MTX1):c.355G>A (p.Ala119Thr)	LOC129931558, MTX1 +1 more (A119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326783	NM_002455.5(MTX1):c.359C>G (p.Thr120Arg)	LOC129931558, MTX1 +1 more (T120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	LCE2C, S100A2 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 93