ClinVar for Gene (Select 8945) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3262092	NM_033637.4(BTRC):c.1138A>G (p.Ile380Val)	BTRC (I380V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262091	NM_033637.4(BTRC):c.800T>C (p.Phe267Ser)	BTRC (F241S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262090	NM_033637.4(BTRC):c.1459A>T (p.Thr487Ser)	BTRC (T487S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250370	NC_000010.10:g.103001852_103543913dup	BTRC, DPCD +4 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3250369	NC_000010.10:g.103012761_103546704dup	BTRC, DPCD +5 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3245035	NC_000010.10:g.(?_103190082)_(103384587_?)dup	BTRC, DPCD +2 more	Duplication	not provided	GUncertain significance
Select item 3245034	NC_000010.10:g.(?_102987027)_(103454397_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244998	NC_000010.10:g.(?_102987027)_(103372254_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244997	NC_000010.10:g.(?_102987027)_(103436213_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3135592	NM_033637.4(BTRC):c.76G>T (p.Gly26Cys)	BTRC (G26C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135591	NM_033637.4(BTRC):c.543A>G (p.Ile181Met)	BTRC (I145M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135590	NM_033637.4(BTRC):c.526T>A (p.Leu176Met)	BTRC (L140M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135589	NM_033637.4(BTRC):c.361C>T (p.Pro121Ser)	BTRC (P85S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135588	NM_033637.4(BTRC):c.1774C>T (p.Pro592Ser)	BTRC (P566S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135587	NM_033637.4(BTRC):c.1630G>C (p.Gly544Arg)	BTRC (G518R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135586	NM_033637.4(BTRC):c.1342A>G (p.Ile448Val)	BTRC (I448V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135585	NM_033637.4(BTRC):c.1256G>A (p.Arg419Gln)	BTRC (R393Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135584	NM_033637.4(BTRC):c.1178A>C (p.Asn393Thr)	BTRC (N367T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063157	GRCh37/hg19 10q24.32(chr10:103197122-103601973)x3	BTRC, DPCD +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063128	GRCh37/hg19 10q24.31-24.32(chr10:102965124-103403057)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063127	GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3041512	NM_033637.4(BTRC):c.-8C>T	BTRC	Single nucleotide variant (5 prime UTR variant)	BTRC-related disorder	GLikely benign
Select item 2975752	NM_033637.4(BTRC):c.1371A>G (p.Glu457=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896958	NM_033637.4(BTRC):c.139G>A (p.Ala47Thr)	BTRC (A47T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888864	NM_033637.4(BTRC):c.510G>A (p.Ser170=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857610	NM_033637.4(BTRC):c.1623T>A (p.Ala541=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800471	NM_033637.4(BTRC):c.1098-14T>C	BTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755145	NM_033637.4(BTRC):c.841-13T>C	BTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723710	NM_033637.4(BTRC):c.1775C>T (p.Pro592Leu)	BTRC (P556L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715642	NM_033637.4(BTRC):c.899G>A (p.Ser300Asn)	BTRC (S300N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701790	NM_033637.4(BTRC):c.795C>T (p.Asn265=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684618	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103525401)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
Select item 2632860	NM_033637.4(BTRC):c.873_874del (p.His291fs)	BTRC (H255fs +2 more)	Deletion (frameshift variant)	BTRC-related disorder	GUncertain significance
Select item 2618839	NM_033637.4(BTRC):c.940C>G (p.Gln314Glu)	BTRC (Q278E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616915	NM_033637.4(BTRC):c.77G>A (p.Gly26Asp)	BTRC (G26D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607686	NM_033637.4(BTRC):c.193C>A (p.Pro65Thr)	BTRC (P29T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2541871	NM_033637.4(BTRC):c.1252C>T (p.Leu418Phe)	BTRC (L392F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530755	NM_033637.4(BTRC):c.986A>G (p.Asp329Gly)	BTRC (D329G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525567	NM_033637.4(BTRC):c.1349T>G (p.Val450Gly)	BTRC (V424G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517305	NM_033637.4(BTRC):c.1646G>C (p.Arg549Pro)	BTRC (R513P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483062	NM_033637.4(BTRC):c.1778C>G (p.Pro593Arg)	BTRC (P557R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426705	NC_000010.10:g.(?_102987027)_(103384587_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 2386836	NM_033637.4(BTRC):c.896G>A (p.Arg299Gln)	BTRC (R273Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348419	NM_033637.4(BTRC):c.1429A>G (p.Arg477Gly)	BTRC (R441G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312657	NM_033637.4(BTRC):c.1778C>T (p.Pro593Leu)	BTRC (P557L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274501	NM_033637.4(BTRC):c.1646G>A (p.Arg549Gln)	BTRC (R549Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246435	NM_033637.4(BTRC):c.1358C>T (p.Thr453Ile)	BTRC (T453I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244329	NM_033637.4(BTRC):c.179G>A (p.Cys60Tyr)	BTRC (C24Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214268	NM_033637.4(BTRC):c.752A>C (p.Tyr251Ser)	BTRC (Y215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2185218	NM_033637.4(BTRC):c.1010G>A (p.Arg337Gln)	BTRC (R301Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133926	NM_033637.4(BTRC):c.286G>C (p.Ala96Pro)	BTRC (A60P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085525	NM_033637.4(BTRC):c.256C>T (p.Leu86Phe)	BTRC (L60F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2072586	NM_033637.4(BTRC):c.1793G>A (p.Arg598Gln)	BTRC (R598Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2062111	NM_033637.4(BTRC):c.49-4G>T	BTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062109	NM_033637.4(BTRC):c.49-6C>T	BTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058547	NM_033637.4(BTRC):c.37C>A (p.Leu13Ile)	BTRC, LOC130004556 (L13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058354	NM_033637.4(BTRC):c.1775C>G (p.Pro592Arg)	BTRC (P592R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2051086	NM_033637.4(BTRC):c.350G>A (p.Ser117Asn)	BTRC (S91N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045020	NM_033637.4(BTRC):c.1315A>G (p.Ile439Val)	BTRC (I403V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042943	NM_033637.4(BTRC):c.1092G>A (p.Thr364=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037522	NM_033637.4(BTRC):c.1665C>T (p.Ser555=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026922	NM_033637.4(BTRC):c.840+10T>A	BTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953937	NM_033637.4(BTRC):c.1638_1639del (p.Cys547fs)	BTRC (C547fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1911485	NM_033637.4(BTRC):c.1348-19A>G	BTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899583	NM_033637.4(BTRC):c.283T>G (p.Leu95Val)	BTRC (L69V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807766	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103445585)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
Select item 1667074	NM_033637.4(BTRC):c.1350A>G (p.Val450=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662043	NM_033637.4(BTRC):c.1775C>A (p.Pro592His)	BTRC (P556H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1658891	NM_033637.4(BTRC):c.687C>T (p.Ile229=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1627118	NM_033637.4(BTRC):c.1491A>G (p.Ala497=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534940	NM_033637.4(BTRC):c.504A>T (p.Ile168=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534223	NM_033637.4(BTRC):c.1627G>T (p.Ala543Ser)	BTRC (A507S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1481701	NM_033637.4(BTRC):c.861A>G (p.Arg287=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1430393	NM_033637.4(BTRC):c.232C>A (p.Gln78Lys)	BTRC (Q78K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1412304	NC_000010.10:g.(?_102987027)_(103530396_?)dup	BTRC, DPCD +4 more	Duplication	not provided	GUncertain significance
Select item 1341280	GRCh37/hg19 10q24.31-24.32(chr10:102924944-103285855)x3	BTRC, LBX1	Copy number gain	not provided	GUncertain significance
Select item 1222592	NM_033637.4(BTRC):c.556+7C>G	BTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979288	GRCh37/hg19 10q24.32(chr10:103132508-103348865)x3	POLL, BTRC +1 more	Copy number gain	not provided	GUncertain significance
Select item 979287	GRCh37/hg19 10q24.32(chr10:103024290-103254047)x3	BTRC	Copy number gain	not provided	GUncertain significance
Select item 815374	GRCh37/hg19 10q24.31-24.32(chr10:102925257-103401586)x3	POLL, BTRC +3 more	Copy number gain	not provided	GPathogenic
Select item 741346	NM_033637.4(BTRC):c.1134G>A (p.Thr378=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734618	NM_033637.4(BTRC):c.1647G>C (p.Arg549=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729638	NM_033637.4(BTRC):c.1164C>T (p.His388=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717492	NM_033637.4(BTRC):c.1159C>T (p.Leu387=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712046	NM_033637.4(BTRC):c.843A>G (p.Thr281=)	BTRC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708808	NM_033637.4(BTRC):c.1240A>G (p.Thr414Ala)	BTRC (T388A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686411	GRCh37/hg19 10q24.32(chr10:103197122-103431579)x3	BTRC, DPCD +2 more	Copy number gain	not provided	GUncertain significance
Select item 635863	NC_000010.10:g.102928083_103377947dup	BTRC, DPCD +3 more	Duplication	Internal malformations	GUncertain significance
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
Select item 590885	Single allele	DPCD, BTRC +5 more	Duplication	Ectrodactyly	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563720	GRCh37/hg19 10q24.32(chr10:103197122-103432125)x3	DPCD, BTRC +2 more	Copy number gain	not provided	GUncertain significance
Select item 563713	GRCh37/hg19 10q24.32(chr10:103130625-103323554)x3	BTRC	Copy number gain	not provided	GUncertain significance
Select item 523913	NM_033637.4(BTRC):c.517A>T (p.Lys173Ter)	BTRC (K173* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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