ClinVar for MedGen (Select 413044) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779777	NM_002206.3(ITGA7):c.1019del (p.Gly340fs)	ITGA7 (G227fs +7 more)	Deletion (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 3729998	NM_002206.3(ITGA7):c.921C>T (p.Pro307=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3725996	NM_002206.3(ITGA7):c.1743T>C (p.Asn581=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3723541	NM_002206.3(ITGA7):c.2196+15G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3721311	NM_002206.3(ITGA7):c.3228C>G (p.Pro1076=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3719188	NM_002206.3(ITGA7):c.415-20C>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3716461	NM_002206.3(ITGA7):c.790+19C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3716230	NM_002206.3(ITGA7):c.2241G>A (p.Glu747=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3715198	NM_002206.3(ITGA7):c.213G>A (p.Leu71=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3713201	NM_002206.3(ITGA7):c.2694G>A (p.Arg898=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3711857	NM_002206.3(ITGA7):c.1559dup (p.Thr521fs)	ITGA7 (T412fs +10 more)	Duplication (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 3709733	NM_002206.3(ITGA7):c.791-19T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3708854	NM_002206.3(ITGA7):c.2959-8dup	ITGA7	Duplication (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3708299	NM_002206.3(ITGA7):c.2004-14del	LOC126861535, ITGA7	Deletion (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GBenign
Select item 3705300	NM_002206.3(ITGA7):c.1567+17C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3704973	NM_002206.3(ITGA7):c.2357+18G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3704687	NM_002206.3(ITGA7):c.6C>T (p.Ala2=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3703075	NM_002206.3(ITGA7):c.2277+20T>C	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3702979	NM_002206.3(ITGA7):c.15G>T (p.Arg5=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3697098	NM_002206.3(ITGA7):c.3022A>G (p.Ile1008Val)	ITGA7 (I1002V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 3695405	NM_002206.3(ITGA7):c.2278-14C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3695104	NM_002206.3(ITGA7):c.2832A>G (p.Lys944=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3694730	NM_002206.3(ITGA7):c.2318T>C (p.Ile773Thr)	ITGA7, LOC126861535 (I664T +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 3689580	NM_002206.3(ITGA7):c.1172T>C (p.Leu391Pro)	ITGA7 (L298P +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 3689579	NM_002206.3(ITGA7):c.1173_1182del (p.Asn392fs)	ITGA7 (N279fs +9 more)	Deletion (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 3684749	NM_002206.3(ITGA7):c.1410-2A>G	ITGA7	Single nucleotide variant (splice acceptor variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 3677977	NM_002206.3(ITGA7):c.2536-13C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3671960	NM_002206.3(ITGA7):c.3184-17G>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3671354	NM_002206.3(ITGA7):c.3132T>G (p.Ala1044=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3666758	NM_002206.3(ITGA7):c.207-17C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3666729	NM_002206.3(ITGA7):c.2713-13dup	ITGA7	Duplication (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GBenign
Select item 3666048	NM_002206.3(ITGA7):c.3240G>A (p.Ala1080=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3660888	NM_002206.3(ITGA7):c.1887+17G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3655331	NM_002206.3(ITGA7):c.453C>T (p.Asp151=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3652515	NM_002206.3(ITGA7):c.2067G>A (p.Leu689=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3643647	NM_002206.3(ITGA7):c.1323C>T (p.Tyr441=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3643037	NM_002206.3(ITGA7):c.1326C>T (p.Ser442=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3640871	NM_002206.3(ITGA7):c.2004-14G>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3637368	NM_002206.3(ITGA7):c.384T>C (p.Val128=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3633828	NM_002206.3(ITGA7):c.1257G>C (p.Leu419=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3631899	NM_002206.3(ITGA7):c.3014A>G (p.Lys1005Arg)	ITGA7 (K1009R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 3630515	NM_002206.3(ITGA7):c.600C>T (p.Gly200=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3627284	NM_002206.3(ITGA7):c.3184-10G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3625501	NM_002206.3(ITGA7):c.2003+10del	ITGA7	Deletion (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GBenign
Select item 3624896	NM_002206.3(ITGA7):c.1371G>A (p.Leu457=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3624367	NM_002206.3(ITGA7):c.1506-4G>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 3624239	NM_002206.3(ITGA7):c.1567+16C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3623872	NM_002206.3(ITGA7):c.2469G>C (p.Val823=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3618385	NM_002206.3(ITGA7):c.3345C>A (p.His1115Gln)	ITGA7 (H1002Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 3614542	NM_002206.3(ITGA7):c.1162C>T (p.Leu388=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3614381	NM_002206.3(ITGA7):c.2181G>T (p.Arg727=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3611075	NM_002206.3(ITGA7):c.276C>T (p.Phe92=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3607673	NM_002206.3(ITGA7):c.1068T>A (p.Tyr356Ter)	ITGA7 (Y243* +7 more)	Single nucleotide variant (nonsense +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 3606044	NM_002206.3(ITGA7):c.2049A>G (p.Pro683=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3242261	NM_002206.3(ITGA7):c.97_98insTG (p.Ala33fs)	ITGA7 (A33fs)	Insertion (frameshift variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 3063579	NM_002206.3(ITGA7):c.206+2T>A	ITGA7	Single nucleotide variant (splice donor variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 3047287	NM_002206.3(ITGA7):c.2845-20C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3012942	NM_002206.3(ITGA7):c.3405C>T (p.Gly1135=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3010843	NM_002206.3(ITGA7):c.840C>T (p.Ser280=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3009339	NM_002206.3(ITGA7):c.216G>A (p.Val72=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3008981	NM_002206.3(ITGA7):c.2959-2A>G	ITGA7	Single nucleotide variant (splice acceptor variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 3007084	NM_002206.3(ITGA7):c.2535+19G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2997928	NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)	ITGA7, LOC126861535 (Q718* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2987631	NM_002206.3(ITGA7):c.3057+7T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2981513	NM_002206.3(ITGA7):c.1212C>A (p.Pro404=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2980066	NM_002206.3(ITGA7):c.1116G>A (p.Arg372=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2979023	NM_002206.3(ITGA7):c.2712+18G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2977614	NM_002206.3(ITGA7):c.3184-18G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2971112	NM_002206.3(ITGA7):c.2706C>T (p.Leu902=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2970343	NM_002206.3(ITGA7):c.1107C>T (p.Ser369=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2968120	NM_002206.3(ITGA7):c.790+5G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2967426	NM_002206.3(ITGA7):c.2140C>T (p.Leu714=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2959770	NM_002206.3(ITGA7):c.1452T>C (p.Ala484=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2958874	NM_002206.3(ITGA7):c.2712+9T>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2918588	NM_002206.3(ITGA7):c.2082G>A (p.Leu694=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2918488	NM_002206.3(ITGA7):c.2003+11C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2913636	NM_002206.3(ITGA7):c.3072A>G (p.Val1024=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2911826	NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)	ITGA7 (L330fs +9 more)	Deletion (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2911269	NM_002206.3(ITGA7):c.2004-1G>A	ITGA7, LOC126861535	Single nucleotide variant (splice acceptor variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 2905888	NM_002206.3(ITGA7):c.2103C>T (p.Pro701=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2905824	NM_002206.3(ITGA7):c.60C>T (p.Gly20=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2903612	NM_002206.3(ITGA7):c.933G>A (p.Leu311=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2902709	NM_002206.3(ITGA7):c.3090T>C (p.Ala1030=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2899938	NM_002206.3(ITGA7):c.415-3C>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2897739	NM_002206.3(ITGA7):c.843T>C (p.Phe281=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2894340	NM_002206.3(ITGA7):c.768C>T (p.Asp256=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2891692	NM_002206.3(ITGA7):c.1966del (p.Thr656fs)	ITGA7 (T208fs +12 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2873714	NM_002206.3(ITGA7):c.2749dup (p.Glu917fs)	ITGA7 (E917fs +5 more)	Duplication (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2867072	NM_002206.3(ITGA7):c.1241A>C (p.Tyr414Ser)	ITGA7 (Y353S +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2862231	NM_002206.3(ITGA7):c.81C>T (p.Leu27=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2857028	NM_002206.3(ITGA7):c.1567+15C>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2854361	NM_002206.3(ITGA7):c.671-5C>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2851576	NM_002206.3(ITGA7):c.3058-13C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2848205	NM_002206.3(ITGA7):c.2357+12G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2826194	NM_002206.3(ITGA7):c.75A>G (p.Glu25=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2824329	NM_002206.3(ITGA7):c.2276del (p.Gln759fs)	ITGA7, LOC126861535 (Q646fs +13 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2818136	NM_002206.3(ITGA7):c.704A>T (p.Asp235Val)	ITGA7 (D235V +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2807452	NM_002206.3(ITGA7):c.1872C>T (p.Ser624=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2800249	NM_002206.3(ITGA7):c.3057+16G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2795167	NM_002206.3(ITGA7):c.1086G>A (p.Gly362=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign

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