CD151[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 1290823	NM_004357.5(CD151):c.-7-291T>C	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289523	NM_004357.5(CD151):c.-7-186C>T	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179338	NM_004357.5(CD151):c.-7-185G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288975	NM_004357.5(CD151):c.-7-55T>C	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271751	NM_004357.5(CD151):c.-7-40C>T	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223149	NM_004357.5(CD151):c.-7-20C>T	CD151	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +2 more	GLikely benign
Select item 2977892	NM_004357.5(CD151):c.15C>T (p.Asn5=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408948	NM_004357.5(CD151):c.16G>A (p.Glu6Lys)	CD151 (E6K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 982562	NM_004357.5(CD151):c.19A>T (p.Lys7Ter)	CD151 (K7*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 7, with nephropathy and deafness	GPathogenic
Select item 750620	NM_004357.5(CD151):c.23A>C (p.Lys8Thr)	CD151 (K8T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1917762	NM_004357.5(CD151):c.24_26del (p.Thr10del)	CD151 (T10del)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2906836	NM_004357.5(CD151):c.69C>T (p.Tyr23=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175013	NM_004357.5(CD151):c.84+13C>T	CD151	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1907231	NM_004357.5(CD151):c.84+14G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967510	NM_004357.5(CD151):c.84+16C>A	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 1556161	NM_004357.5(CD151):c.84+20CCCCCA[4]	CD151	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 1644581	NM_004357.5(CD151):c.84+30_84+41del	CD151	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1631297	NM_004357.5(CD151):c.84+20CCCCCA[2]	CD151	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1183264	NM_004357.5(CD151):c.85-24A>G	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
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 1508473	NM_004357.5(CD151):c.130C>T (p.Leu44Phe)	CD151 (L44F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441699	NM_004357.5(CD151):c.145A>G (p.Ile49Val)	CD151 (I49V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1944435	NM_004357.5(CD151):c.164G>A (p.Gly55Asp)	CD151 (G55D)	Single nucleotide variant (missense variant)	not provided	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 1911876	NM_004357.5(CD151):c.189C>A (p.Ile63=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054181	NM_004357.5(CD151):c.201G>A (p.Ala67=)	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 2962153	NM_004357.5(CD151):c.204C>T (p.Gly68=)	CD151	Single nucleotide variant (synonymous 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 1585536	NM_004357.5(CD151):c.210C>T (p.Val70=)	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 2817701	NM_004357.5(CD151):c.215T>C (p.Met72Thr)	CD151 (M72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714494	NM_004357.5(CD151):c.240C>T (p.Cys80=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1428000	NM_004357.5(CD151):c.241G>A (p.Ala81Thr)	CD151 (A81T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 1554147	NM_004357.5(CD151):c.252G>T (p.Lys84Asn)	CD151 (K84N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 1994329	NM_004357.5(CD151):c.259C>G (p.Arg87Gly)	CD151 (R87G)	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 1589472	NM_004357.5(CD151):c.261G>C (p.Arg87=)	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 806591	NM_004357.5(CD151):c.272G>A (p.Arg91His)	CD151 (R91H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640785	NM_004357.5(CD151):c.276+11C>T	CD151	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +2 more	GLikely benign
Select item 1621958	NM_004357.5(CD151):c.276+12G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286938	NM_004357.5(CD151):c.276+107del	CD151	Deletion (intron variant)	not provided	GBenign
Select item 2120632	NM_004357.5(CD151):c.277-20C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282297	NM_004357.5(CD151):c.277-3dup	CD151	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 2427959	NM_004357.5(CD151):c.277-3del	CD151	Deletion (intron variant)	not provided	GBenign
Select item 2100420	NM_004357.5(CD151):c.277-10C>T	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796896	NM_004357.5(CD151):c.277-9C>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739567	NM_004357.5(CD151):c.277-5C>G	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980476	NM_004357.5(CD151):c.277-4C>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790123	NM_004357.5(CD151):c.277-3C>G	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 2173161	NM_004357.5(CD151):c.294C>T (p.Leu98=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1431457	NM_004357.5(CD151):c.295A>C (p.Ile99Leu)	CD151 (I99L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness +3 more	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 2623021	NM_004357.5(CD151):c.318C>G (p.Ile106Met)	CD151 (I106M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1355643	NM_004357.5(CD151):c.328C>G (p.Leu110Val)	CD151 (L110V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2192074	NM_004357.5(CD151):c.330C>T (p.Leu110=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3350505	NM_004357.5(CD151):c.336C>T (p.Tyr112=)	CD151	Single nucleotide variant (synonymous variant)	CD151-related disorder	GLikely benign
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 1930293	NM_004357.5(CD151):c.345C>T (p.Tyr115=)	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 1573488	NM_004357.5(CD151):c.351+7G>A	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243313	NM_004357.5(CD151):c.351+21A>G	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274247	NM_004357.5(CD151):c.351+128G>C	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182103	NM_004357.5(CD151):c.352-166G>A	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235157	NM_004357.5(CD151):c.352-129G>C	CD151	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2066958	NM_004357.5(CD151):c.352-11C>G	CD151	Single nucleotide variant (intron 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 1429056	NM_004357.5(CD151):c.359C>T (p.Thr120Met)	CD151 (T120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049922	NM_004357.5(CD151):c.379A>C (p.Lys127Gln)	CD151 (K127Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 7380	NM_004357.5(CD151):c.382dup (p.Asp128fs)	CD151 (D128fs)	Duplication (frameshift variant)	Epidermolysis bullosa simplex 7, with nephropathy and deafness	GPathogenic
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 2099915	NM_004357.5(CD151):c.400T>A (p.Tyr134Asn)	CD151 (Y134N)	Single nucleotide variant (missense 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 1908723	NM_004357.5(CD151):c.415C>T (p.His139Tyr)	CD151 (H139Y)	Single nucleotide variant (missense variant)	not provided +1 more	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 2115448	NM_004357.5(CD151):c.429C>T (p.Thr143=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625120	NM_004357.5(CD151):c.432C>T (p.Ser144=)	CD151	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3057978	NM_004357.5(CD151):c.438G>A (p.Val146=)	CD151	Single nucleotide variant (synonymous variant)	CD151-related disorder	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 1547196	NM_004357.5(CD151):c.456+9G>A	CD151	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2182161	NM_004357.5(CD151):c.456+10T>G	CD151	Single nucleotide variant (intron variant)	not provided	GLikely benign

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