ClinVar for Gene (Select 3043) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375209	NM_000518.5(HBB):c.-39T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3366377	NM_000518.5(HBB):c.209G>C (p.Gly70Ala)	HBB, LOC106099062 +1 more (G70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364255	NM_000518.5(HBB):c.-1C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3339275	NM_000518.5(HBB):c.85C>G (p.Leu29Val)	HBB, LOC106099062 +1 more (L29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336606	NM_000518.5(HBB):c.161C>T (p.Ala54Val)	HBB, LOC106099062 +1 more (A54V)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3336460	NM_000518.5(HBB):c.43C>G (p.Leu15Val)	HBB, LOC106099062 +1 more (L15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336287	NM_000518.5(HBB):c.327C>G (p.Asn109Lys)	HBB, LOC107133510 +1 more (N109K)	Single nucleotide variant (missense variant)	beta Thalassemia	GLikely pathogenic
Select item 3335957	NM_000518.5(HBB):c.*1G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3255366	Single allele	A-GAMMA3'E, BGLT3 +15 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3255364	Single allele	HBB, HBD +5 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3255363	Single allele	HBB, HBD +5 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3255362	Single allele	A-GAMMA3'E, BGLT3 +9 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3251803	NM_000518.5(HBB):c.400G>T (p.Val134Leu)	LOC110006319, HBB +1 more (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244734	NC_000011.9:g.(?_5246486)_(5247105_?)del	HBB	Deletion	not provided	GPathogenic
Select item 3244733	NC_000011.9:g.(?_5247800)_(5255213_?)del	HBB, HBD	Deletion	not provided	GPathogenic
Select item 3244732	NC_000011.9:g.(?_5246696)_(5248301_?)del	HBB	Deletion	not provided	GPathogenic
Select item 3235090	NM_000518.5(HBB):c.385G>A (p.Ala129Thr)	HBB, LOC107133510 +1 more (A129T)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB	GUncertain significance
Select item 3233600	NM_000518.5(HBB):c.-6G>C	LOC106099062, HBB +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3233358	NM_000518.4(HBB):c.-124A>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB	GUncertain significance
Select item 3068890	NC_000011.9:g.(?_5246693)_(5246957_5247806)del	HBB	Deletion	beta Thalassemia	GPathogenic
Select item 3068889	NM_000518.5(HBB):c.19del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	Hemoglobinopathy	GPathogenic
Select item 3067562	NM_000518.5(HBB):c.412G>A (p.Val138Met)	HBB, LOC107133510 +1 more (V138M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051702	NC_000011.10:g.5227091C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	HBB-related disorder	GLikely benign
Select item 3019267	NM_000518.5(HBB):c.316-259A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962205	NM_000518.5(HBB):c.315+369C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959873	NM_000518.5(HBB):c.315+361T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955337	NM_000518.5(HBB):c.316-412A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920960	NM_000518.5(HBB):c.308A>T (p.Asn103Ile)	HBB, LOC106099062 +2 more (N103I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901561	NM_000518.5(HBB):c.171C>A (p.Gly57=)	LOC106099062, HBB +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878634	NM_000518.5(HBB):c.93-55G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877828	NM_000518.5(HBB):c.316-51A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877762	NM_000518.5(HBB):c.315+167T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877740	NM_000518.5(HBB):c.316-191C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877060	NM_000518.5(HBB):c.92+25G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876382	NM_000518.5(HBB):c.316-357T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876055	NM_000518.5(HBB):c.315+406G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875907	NM_000518.5(HBB):c.316-33del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2875229	NM_000518.5(HBB):c.315+105C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873194	NM_000518.5(HBB):c.339T>C (p.Cys113=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873169	NM_000518.5(HBB):c.315+239C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867760	NM_000518.5(HBB):c.84C>A (p.Ala28=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862763	NM_000518.5(HBB):c.315+411A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862258	NM_000518.5(HBB):c.316-284C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862032	NM_000518.5(HBB):c.316-128G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860725	NM_000518.5(HBB):c.267G>A (p.Leu89=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860247	NM_000518.5(HBB):c.315+273A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857197	NM_000518.5(HBB):c.315+385dup	HBB, LOC107133510 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2856346	NM_000518.5(HBB):c.315+245G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856031	NM_000518.5(HBB):c.315+251A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854276	NM_000518.5(HBB):c.195C>T (p.Gly65=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853365	NC_000011.10:g.5226995_5227524del	HBB, LOC106099062 +1 more	Deletion	not provided	GPathogenic
Select item 2852703	NM_000518.5(HBB):c.315+82_315+83del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2852384	NM_000518.5(HBB):c.316-308C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851326	NM_000518.5(HBB):c.315+324C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849928	NM_000518.5(HBB):c.316-315dup	LOC107133510, LOC110006319 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 2849566	NM_000518.5(HBB):c.316-14T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848166	NM_000518.5(HBB):c.315+294T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847814	NM_000518.5(HBB):c.315+219C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847426	NM_000518.5(HBB):c.315+262A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846440	NM_000518.5(HBB):c.315+296A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845945	NM_000518.5(HBB):c.315+356T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845297	NM_000518.5(HBB):c.315+204_315+206del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2845263	NM_000518.5(HBB):c.315+90G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844469	NM_000518.5(HBB):c.354C>T (p.His118=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842293	NM_000518.5(HBB):c.315+96A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838569	NM_000518.5(HBB):c.315+164del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2837304	NM_000518.5(HBB):c.316-60C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833520	NM_000518.5(HBB):c.316-248T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832734	NM_000518.5(HBB):c.316-144T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831713	NM_000518.5(HBB):c.316-119A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831007	NM_000518.5(HBB):c.315+226T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830937	NM_000518.5(HBB):c.316-122A>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830691	NM_000518.5(HBB):c.316-118G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830420	NM_000518.5(HBB):c.316-117C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829919	NM_000518.5(HBB):c.315+124G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829888	NM_000518.5(HBB):c.315+325T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829859	NM_000518.5(HBB):c.315+372A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829137	NM_000518.5(HBB):c.315+188_315+191del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2828894	NM_000518.5(HBB):c.265C>T (p.Leu89=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828044	NM_000518.5(HBB):c.315+392T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827665	NM_000518.5(HBB):c.315+109C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826978	NM_000518.5(HBB):c.316-392G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826637	NM_000518.5(HBB):c.316-24A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825403	NM_000518.5(HBB):c.93-9dup	HBB, LOC106099062 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2825370	NM_000518.5(HBB):c.93-27C>G	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825157	NM_000518.5(HBB):c.316-142A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824341	NM_000518.5(HBB):c.316-155T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824238	NM_000518.5(HBB):c.315+264C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823430	NM_000518.5(HBB):c.315+23G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823108	NM_000518.5(HBB):c.316-394G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821618	NM_000518.5(HBB):c.147G>C (p.Leu49=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821601	NM_000518.5(HBB):c.315+174A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819196	NM_000518.5(HBB):c.315+323C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818822	NM_000518.5(HBB):c.315+74T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818393	NM_000518.5(HBB):c.316-389C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817876	NM_000518.5(HBB):c.315+409A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817790	NM_000518.5(HBB):c.315+144T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817359	NM_000518.5(HBB):c.93-28G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816740	NM_000518.5(HBB):c.315+140A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816145	NM_000518.5(HBB):c.93-36C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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