ClinVar for Gene (Select 633) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251128	NM_001711.6(BGN):c.960C>T (p.Phe320=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3246463	NC_000023.10:g.(?_152770090)_(152770347_?)dup	BGN	Duplication	not provided	GUncertain significance
Select item 3245014	NC_000023.10:g.(?_152482081)_(153416424_?)del	PNCK, PNMA6E +27 more	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239336	NM_001711.6(BGN):c.900G>A (p.Lys300=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3221771	NM_001711.6(BGN):c.854A>G (p.Asp285Gly)	BGN (D285G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221770	NM_001711.6(BGN):c.849C>T (p.His283=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221769	NM_001711.6(BGN):c.833C>G (p.Thr278Ser)	BGN (T278S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221768	NM_001711.6(BGN):c.368A>G (p.Asn123Ser)	BGN (N123S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221767	NM_001711.6(BGN):c.306C>T (p.Ile102=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221766	NM_001711.6(BGN):c.117G>C (p.Glu39Asp)	BGN (E39D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221765	NM_001711.6(BGN):c.1073G>T (p.Arg358Leu)	BGN (R358L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3031400	NM_001711.6(BGN):c.910-1G>C	BGN	Single nucleotide variant (splice acceptor variant)	BGN-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	FRMPD3, FTX +488 more	Copy number gain	not provided	GPathogenic
Select item 3023868	NM_001711.6(BGN):c.566-12T>A	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022617	NM_001711.6(BGN):c.391G>A (p.Glu131Lys)	BGN (E131K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022612	NM_001711.6(BGN):c.910-17G>A	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018514	NM_001711.6(BGN):c.108G>A (p.Met36Ile)	BGN (M36I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008697	NM_001711.6(BGN):c.711C>A (p.Asp237Glu)	BGN (D237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006855	NM_001711.6(BGN):c.195C>T (p.Phe65=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006069	NM_001711.6(BGN):c.91G>T (p.Asp31Tyr)	BGN (D31Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005727	NM_001711.6(BGN):c.239-15G>A	BGN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3004629	NM_001711.6(BGN):c.91G>A (p.Asp31Asn)	BGN (D31N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000651	NM_001711.6(BGN):c.65G>C (p.Arg22Thr)	BGN (R22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000616	NM_001711.6(BGN):c.795C>G (p.Ile265Met)	BGN (I265M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998343	NM_001711.6(BGN):c.159C>T (p.Asp53=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995179	NM_001711.6(BGN):c.204C>T (p.His68=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989227	NM_001711.6(BGN):c.734A>C (p.Glu245Ala)	BGN (E245A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987621	NM_001711.6(BGN):c.180C>T (p.Ser60=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986625	NM_001711.6(BGN):c.317G>T (p.Arg106Leu)	BGN (R106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983148	NM_001711.6(BGN):c.309C>T (p.Ser103=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977681	NM_001711.6(BGN):c.117G>A (p.Glu39=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2971889	NM_001711.6(BGN):c.810C>T (p.Asn270=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965504	NM_001711.6(BGN):c.766T>C (p.Tyr256His)	BGN (Y256H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962509	NM_001711.6(BGN):c.951C>T (p.Val317=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962420	NM_001711.6(BGN):c.566-16G>A	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961087	NM_001711.6(BGN):c.501C>A (p.His167Gln)	BGN (H167Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956934	NM_001711.6(BGN):c.742G>C (p.Asp248His)	BGN (D248H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956198	NM_001711.6(BGN):c.574G>A (p.Gly192Arg)	BGN (G192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956195	NM_001711.6(BGN):c.352-15C>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921020	NM_001711.6(BGN):c.572G>A (p.Gly191Asp)	BGN (G191D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908293	NM_001711.6(BGN):c.979G>T (p.Val327Leu)	BGN (V327L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905449	NM_001711.6(BGN):c.811G>A (p.Gly271Arg)	BGN (G271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891446	NM_001711.6(BGN):c.492C>G (p.Leu164=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889655	NM_001711.6(BGN):c.918T>C (p.Tyr306=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888271	NM_001711.6(BGN):c.186G>A (p.Met62Ile)	BGN (M62I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871967	NM_001711.6(BGN):c.685G>C (p.Glu229Gln)	BGN (E229Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870336	NM_001711.6(BGN):c.566-13G>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869764	NM_001711.6(BGN):c.315C>T (p.Leu105=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848363	NM_001711.6(BGN):c.611C>G (p.Ala204Gly)	BGN (A204G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847644	NM_001711.6(BGN):c.441G>A (p.Lys147=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847643	NM_001711.6(BGN):c.440dup (p.Asn148fs)	BGN (N148fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2844978	NM_001711.6(BGN):c.1025T>G (p.Val342Gly)	BGN (V342G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838005	NM_001711.6(BGN):c.1096T>A (p.Tyr366Asn)	BGN (Y366N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836060	NM_001711.6(BGN):c.95G>C (p.Gly32Ala)	BGN (G32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827860	NM_001711.6(BGN):c.400T>C (p.Phe134Leu)	BGN (F134L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825937	NM_001711.6(BGN):c.897C>G (p.Leu299=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823680	NM_001711.6(BGN):c.993C>T (p.Tyr331=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818259	NM_001711.6(BGN):c.565+8G>A	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818032	NM_001711.6(BGN):c.989C>T (p.Ala330Val)	BGN (A330V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817172	NM_001711.6(BGN):c.570G>A (p.Met190Ile)	BGN (M190I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811418	NM_001711.6(BGN):c.676+6A>G	BGN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2809726	NM_001711.6(BGN):c.989C>A (p.Ala330Asp)	BGN (A330D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808483	NM_001711.6(BGN):c.27T>C (p.Ser9=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799744	NM_001711.6(BGN):c.196G>T (p.Gly66Cys)	BGN (G66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787594	NM_001711.6(BGN):c.1079C>T (p.Ala360Val)	BGN (A360V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786074	NM_001711.6(BGN):c.940A>G (p.Lys314Glu)	BGN (K314E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758427	NM_001711.6(BGN):c.579C>A (p.Asn193Lys)	BGN (N193K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756721	NM_001711.6(BGN):c.676+13C>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743533	NM_001711.6(BGN):c.861C>G (p.Asn287Lys)	BGN (N287K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715401	NM_001711.6(BGN):c.604C>G (p.Pro202Ala)	BGN (P202A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685773	GRCh37/hg19 Xq28(chrX:152713659-153005670)x2	ABCD1, ATP2B3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2663759	NM_001711.6(BGN):c.677-2A>T	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663758	NM_001711.6(BGN):c.677-2A>G	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663757	NM_001711.6(BGN):c.565G>A (p.Glu189Lys)	BGN (E189K)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663756	NM_001711.6(BGN):c.441delinsAA (p.Asn148fs)	BGN (N148fs)	Indel (frameshift variant)	Meester-Loeys syndrome	GUncertain significance
Select item 2663755	NM_001711.6(BGN):c.351+1G>A	BGN	Single nucleotide variant (splice donor variant)	Meester-Loeys syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2663754	NM_001711.6(BGN):c.910-1G>A	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663753	NM_001711.6(BGN):c.46del (p.Ala16fs)	BGN (A16fs)	Deletion (frameshift variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2634138	NM_001711.6(BGN):c.901C>G (p.Leu301Val)	BGN (L301V)	Single nucleotide variant (missense variant)	BGN-related disorder	GUncertain significance
Select item 2633259	NM_001711.6(BGN):c.855CAA[2] (p.Asn287del)	BGN (N287del)	Microsatellite (inframe_deletion)	BGN-related disorder +1 more	GUncertain significance
Select item 2630447	NM_001711.6(BGN):c.21C>A (p.Leu7=)	BGN	Single nucleotide variant (synonymous variant)	BGN-related disorder	GUncertain significance
Select item 2626585	NM_001711.6(BGN):c.1025T>C (p.Val342Ala)	BGN (V342A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626583	NM_001711.6(BGN):c.532G>A (p.Val178Met)	BGN (V178M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626582	NM_001711.6(BGN):c.737T>C (p.Leu246Pro)	BGN (L246P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2581633	NM_001711.6(BGN):c.*20G>A	BGN	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2581339	NM_001711.6(BGN):c.*18G>A	BGN	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2581338	NM_001711.6(BGN):c.480C>G (p.Ser160=)	BGN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2579108	NM_001711.6(BGN):c.461del (p.Pro154fs)	BGN (P154fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2564956	NM_001711.6(BGN):c.118G>C (p.Glu40Gln)	BGN (E40Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564955	NM_001711.6(BGN):c.1087T>C (p.Phe363Leu)	BGN (F363L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564954	NM_001711.6(BGN):c.446A>G (p.His149Arg)	BGN (H149R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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