ClinVar for Gene (Select 977) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063226	GRCh37/hg19 11p15.5(chr11:743761-894572)x1	CD151, CEND1 +10 more	Copy number loss	not specified	GUncertain significance
Select item 3057978	NM_004357.5(CD151):c.438G>A (p.Val146=)	CD151	Single nucleotide variant (synonymous variant)	CD151-related disorder	GLikely benign
Select item 3004327	NM_004357.5(CD151):c.494G>A (p.Arg165Gln)	CD151 (R165Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999907	NM_004357.5(CD151):c.474C>T (p.Ser158=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988288	NM_004357.5(CD151):c.211G>A (p.Val71Ile)	CD151 (V71I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986407	NM_004357.5(CD151):c.352-3C>A	CD151	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982024	NM_004357.5(CD151):c.289CTC[1] (p.Leu98del)	CD151 (L98del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2977892	NM_004357.5(CD151):c.15C>T (p.Asn5=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975742	NM_004357.5(CD151):c.251A>G (p.Lys84Arg)	CD151 (K84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972538	NM_004357.5(CD151):c.328C>T (p.Leu110Phe)	CD151 (L110F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967510	NM_004357.5(CD151):c.84+16C>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963768	NM_004357.5(CD151):c.256C>T (p.Arg86Cys)	CD151 (R86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962153	NM_004357.5(CD151):c.204C>T (p.Gly68=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2960852	NM_004357.5(CD151):c.297C>T (p.Ile99=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2960612	NM_004357.5(CD151):c.410C>T (p.Pro137Leu)	CD151 (P137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957440	NM_004357.5(CD151):c.616-8C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956043	NM_004357.5(CD151):c.457-14T>C	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2906836	NM_004357.5(CD151):c.69C>T (p.Tyr23=)	CD151	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2902002	NM_004357.5(CD151):c.40G>C (p.Val14Leu)	CD151 (V14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883376	NM_004357.5(CD151):c.729C>T (p.Cys243=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2817701	NM_004357.5(CD151):c.215T>C (p.Met72Thr)	CD151 (M72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799245	NM_004357.5(CD151):c.623G>A (p.Cys208Tyr)	CD151 (C208Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796896	NM_004357.5(CD151):c.277-9C>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796879	NM_004357.5(CD151):c.754C>T (p.His252Tyr)	CD151 (H252Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790123	NM_004357.5(CD151):c.277-3C>G	CD151	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2770818	NM_004357.5(CD151):c.521A>C (p.Glu174Ala)	CD151 (E174A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761105	NM_004357.5(CD151):c.502G>A (p.Glu168Lys)	CD151 (E168K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746036	NM_004357.5(CD151):c.416A>T (p.His139Leu)	CD151 (H139L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724654	NM_004357.5(CD151):c.616-4G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717855	NM_004357.5(CD151):c.562G>C (p.Val188Leu)	CD151 (V188L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2716653	NM_004357.5(CD151):c.185A>G (p.Tyr62Cys)	CD151 (Y62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708749	NM_004357.5(CD151):c.260G>T (p.Arg87Leu)	CD151 (R87L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2623021	NM_004357.5(CD151):c.318C>G (p.Ile106Met)	CD151 (I106M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2471890	NM_004357.5(CD151):c.757T>C (p.Tyr253His)	CD151 (Y253H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2427959	NM_004357.5(CD151):c.277-3del	CD151	Deletion (intron variant)	not provided	GBenign
Select item 2425076	NC_000011.9:g.(?_836749)_(838192_?)del	CD151	Deletion	not provided	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2287707	NM_004357.5(CD151):c.664G>A (p.Val222Ile)	CD151 (V222I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2244434	NM_004357.5(CD151):c.439G>A (p.Asp147Asn)	CD151 (D147N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241253	NM_004357.5(CD151):c.504G>T (p.Glu168Asp)	CD151 (E168D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202204	NM_004357.5(CD151):c.723G>A (p.Thr241=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192074	NM_004357.5(CD151):c.330C>T (p.Leu110=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188833	NM_004357.5(CD151):c.525C>T (p.Ala175=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185062	NM_004357.5(CD151):c.735C>T (p.Tyr245=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184875	NM_004357.5(CD151):c.271C>T (p.Arg91Cys)	CD151 (R91C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182161	NM_004357.5(CD151):c.456+10T>G	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179071	NM_004357.5(CD151):c.257G>A (p.Arg86His)	CD151 (R86H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2178170	NM_004357.5(CD151):c.702+4A>G	CD151	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2173161	NM_004357.5(CD151):c.294C>T (p.Leu98=)	CD151	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2149834	NM_004357.5(CD151):c.433G>A (p.Ala145Thr)	CD151 (A145T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122569	NM_004357.5(CD151):c.207T>G (p.Thr69=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120632	NM_004357.5(CD151):c.277-20C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120298	NM_004357.5(CD151):c.149G>C (p.Ser50Thr)	CD151 (S50T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115448	NM_004357.5(CD151):c.429C>T (p.Thr143=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103252	NM_004357.5(CD151):c.349C>T (p.Gln117Ter)	CD151 (Q117*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2100420	NM_004357.5(CD151):c.277-10C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099915	NM_004357.5(CD151):c.400T>A (p.Tyr134Asn)	CD151 (Y134N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075207	NM_004357.5(CD151):c.616-5C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071236	NM_004357.5(CD151):c.561G>C (p.Thr187=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071235	NM_004357.5(CD151):c.685G>A (p.Gly229Ser)	CD151 (G229S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071208	NM_004357.5(CD151):c.699G>C (p.Val233=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066958	NM_004357.5(CD151):c.352-11C>G	CD151	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2054590	NM_004357.5(CD151):c.687C>T (p.Gly229=)	CD151	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2054181	NM_004357.5(CD151):c.201G>A (p.Ala67=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050926	NM_004357.5(CD151):c.546C>T (p.Asp182=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050739	NM_004357.5(CD151):c.104T>C (p.Met35Thr)	CD151 (M35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048314	NM_004357.5(CD151):c.533G>A (p.Arg178His)	CD151 (R178H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994949	NM_004357.5(CD151):c.624C>T (p.Cys208=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994329	NM_004357.5(CD151):c.259C>G (p.Arg87Gly)	CD151 (R87G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991395	NM_004357.5(CD151):c.616-12C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981701	NM_004357.5(CD151):c.462C>T (p.His154=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1980476	NM_004357.5(CD151):c.277-4C>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968518	NM_004357.5(CD151):c.477C>T (p.Asn159=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965336	NM_004357.5(CD151):c.202G>A (p.Gly68Ser)	CD151 (G68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953889	NM_004357.5(CD151):c.616-9G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944435	NM_004357.5(CD151):c.164G>A (p.Gly55Asp)	CD151 (G55D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943752	NM_004357.5(CD151):c.541C>T (p.Pro181Ser)	CD151 (P181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943416	NM_004357.5(CD151):c.343T>C (p.Tyr115His)	CD151 (Y115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941690	NM_004357.5(CD151):c.703-19C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939826	NM_004357.5(CD151):c.84+18_84+23dup	CD151	Duplication (intron variant)	not provided	GLikely benign
Select item 1933359	NM_004357.5(CD151):c.561G>A (p.Thr187=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930293	NM_004357.5(CD151):c.345C>T (p.Tyr115=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927845	NM_004357.5(CD151):c.616-10C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921912	NM_004357.5(CD151):c.398G>A (p.Arg133His)	CD151 (R133H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917762	NM_004357.5(CD151):c.24_26del (p.Thr10del)	CD151 (T10del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1911876	NM_004357.5(CD151):c.189C>A (p.Ile63=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908723	NM_004357.5(CD151):c.415C>T (p.His139Tyr)	CD151 (H139Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1907231	NM_004357.5(CD151):c.84+14G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901915	NM_004357.5(CD151):c.733T>C (p.Tyr245His)	CD151 (Y245H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1898583	NM_004357.5(CD151):c.722C>T (p.Thr241Met)	CD151 (T241M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	AP2A2, BRSK2 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1663558	NM_004357.5(CD151):c.703-15C>T	CD151	Single nucleotide variant (intron variant)	RAPH BLOOD GROUP SYSTEM +2 more	GLikely benign
Select item 1654339	NM_004357.5(CD151):c.642C>T (p.Thr214=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644581	NM_004357.5(CD151):c.84+30_84+41del	CD151	Microsatellite (intron variant)	not provided	GLikely benign

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