Related gene-specific medical variations for Gene (Select 3679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261072	NM_001487.4(BLOC1S1):c.4G>C (p.Ala2Pro)	BLOC1S1, BLOC1S1-RDH5 +1 more (A2P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261071	NM_001487.4(BLOC1S1):c.37C>T (p.Arg13Trp)	BLOC1S1, BLOC1S1-RDH5 +1 more (R13W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261070	NM_001487.4(BLOC1S1):c.17G>C (p.Arg6Pro)	BLOC1S1, BLOC1S1-RDH5 +1 more (R6P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3134132	NM_001487.4(BLOC1S1):c.26G>A (p.Arg9His)	BLOC1S1, BLOC1S1-RDH5 +1 more (R9H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134131	NM_001487.4(BLOC1S1):c.20G>A (p.Gly7Asp)	BLOC1S1, BLOC1S1-RDH5 +1 more (G7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3027223	NM_002206.3(ITGA7):c.2343G>A (p.Glu781=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 2793711	NM_002206.3(ITGA7):c.2419C>T (p.Leu807=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2766214	NM_002206.3(ITGA7):c.2357+12G>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2739685	NM_002206.3(ITGA7):c.2331A>G (p.Glu777=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2689262	NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)	ITGA7 (D418G +12 more)	Indel (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689261	NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)	ITGA7 (I1001L +13 more)	Inversion (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689260	NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)	ITGA7 (R202P +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2517381	NM_001487.4(BLOC1S1):c.72G>T (p.Gln24His)	BLOC1S1, BLOC1S1-RDH5 +2 more (Q24H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2432917	NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)	ITGA7 (Q150P +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432916	NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)	ITGA7 (W1009L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432915	NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)	ITGA7 (I300N +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432914	NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)	ITGA7 (F114C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432911	NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)	ITGA7 (S263F +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432910	NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)	ITGA7 (G250R +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432906	NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)	ITGA7, LOC126861535 (F314L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432905	NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)	ITGA7 (I1014M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432904	NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)	ITGA7, LOC126861535 (D259E +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432903	NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)	ITGA7 (S387W +10 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432900	NM_002206.3(ITGA7):c.253G>A (p.Ala85Thr)	ITGA7 (A85T)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432898	NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)	ITGA7 (V242G +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432897	NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)	ITGA7 (R1003Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432896	NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)	ITGA7 (E165K +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432895	NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)	ITGA7, LOC126861535 (I237V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432893	NM_002206.3(ITGA7):c.380G>C (p.Ser127Thr)	ITGA7 (S127T +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432892	NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)	ITGA7 (L1038V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432891	NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)	ITGA7 (S490C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432889	NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)	ITGA7, LOC126861535 (T313A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 2428251	NM_002206.3(ITGA7):c.2229C>T (p.Ala743=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2420963	NM_002206.3(ITGA7):c.2466T>A (p.Gly822=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2233511	NM_001487.4(BLOC1S1):c.74C>T (p.Pro25Leu)	BLOC1S1, BLOC1S1-RDH5 +2 more (P25L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2192188	NM_002206.3(ITGA7):c.2011G>A (p.Asp671Asn)	ITGA7, LOC126861535 (D223N +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2167728	NM_002206.3(ITGA7):c.2179C>T (p.Arg727Trp)	ITGA7, LOC126861535 (R618W +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2154907	NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter)	ITGA7, LOC126861535 (Q723* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2154859	NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)	ITGA7, LOC126861535 (T711M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2118049	NM_002206.3(ITGA7):c.2054T>C (p.Ile685Thr)	ITGA7, LOC126861535 (I572T +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2100713	NM_002206.3(ITGA7):c.2336A>C (p.Glu779Ala)	ITGA7, LOC126861535 (E666A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2100396	NM_002206.3(ITGA7):c.2273C>T (p.Ala758Val)	ITGA7, LOC126861535 (A649V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2083771	NM_002206.3(ITGA7):c.2075C>A (p.Thr692Asn)	ITGA7, LOC126861535 (T579N +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2071730	NM_002206.3(ITGA7):c.2483G>A (p.Arg828Lys)	ITGA7, LOC126861535 (R380K +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2063710	NM_002206.3(ITGA7):c.2288A>G (p.Tyr763Cys)	ITGA7, LOC126861535 (Y315C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2063072	NM_002206.3(ITGA7):c.2196G>A (p.Ala732=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2042548	NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)	ITGA7, LOC126861535 (G644S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2042008	NM_002206.3(ITGA7):c.2397C>T (p.Ala799=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2037078	NM_002206.3(ITGA7):c.2197-18C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2020026	NM_002206.3(ITGA7):c.2139C>G (p.Leu713=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1975324	NM_002206.3(ITGA7):c.2196+14G>T	LOC126861535, ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1965272	NM_002206.3(ITGA7):c.2197-2A>G	ITGA7, LOC126861535	Single nucleotide variant (splice acceptor variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1929915	NM_002206.3(ITGA7):c.2116G>A (p.Asp706Asn)	ITGA7, LOC126861535 (D677N +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1929240	NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)	ITGA7, LOC126861535 (V606I +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 1929158	NM_002206.3(ITGA7):c.2535+20C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1919419	NM_002206.3(ITGA7):c.2119G>A (p.Asp707Asn)	ITGA7, LOC126861535 (D594N +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1912953	NM_002206.3(ITGA7):c.2196+20A>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1663128	NM_002206.3(ITGA7):c.2059C>T (p.Leu687=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1658435	NM_002206.3(ITGA7):c.2401G>A (p.Val801Ile)	ITGA7, LOC126861535 (V353I +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GBenign
Select item 1646176	NM_002206.3(ITGA7):c.2196+18G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1635937	NM_002206.3(ITGA7):c.2432+11C>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1630639	NM_002206.3(ITGA7):c.2235T>C (p.His745=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1622866	NM_002206.3(ITGA7):c.2357+17C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1611141	NM_002206.3(ITGA7):c.2094A>G (p.Pro698=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1609458	NM_002206.3(ITGA7):c.2307C>G (p.Ser769=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1524928	NM_002206.3(ITGA7):c.2138T>C (p.Leu713Pro)	ITGA7, LOC126861535 (L604P +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1516686	NM_002206.3(ITGA7):c.2070G>C (p.Met690Ile)	ITGA7, LOC126861535 (M581I +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1504130	NM_002206.3(ITGA7):c.2453TCT[2] (p.Phe820del)	ITGA7, LOC126861535 (F711del +5 more)	Microsatellite (inframe_deletion +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1484695	NM_002206.3(ITGA7):c.2392C>G (p.Arg798Gly)	ITGA7, LOC126861535 (R350G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1484472	NM_002206.3(ITGA7):c.2176G>A (p.Val726Ile)	ITGA7, LOC126861535 (V617I +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1468352	NM_002206.3(ITGA7):c.2339T>C (p.Val780Ala)	ITGA7, LOC126861535 (V774A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1463340	NM_002206.3(ITGA7):c.2219A>G (p.Asn740Ser)	ITGA7, LOC126861535 (N744S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1460009	NM_002206.3(ITGA7):c.2307C>T (p.Ser769=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1425593	NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe)	ITGA7, LOC126861535 (L812F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1415050	NM_002206.3(ITGA7):c.2500C>T (p.Arg834Trp)	ITGA7, LOC126861535 (R725W +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1394724	NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs)	ITGA7, LOC126861535 (E771fs +5 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 1384844	NM_002206.3(ITGA7):c.2357+11C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1384253	NM_002206.3(ITGA7):c.2068A>T (p.Met690Leu)	ITGA7, LOC126861535 (M581L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1376619	NM_002206.3(ITGA7):c.2327C>T (p.Thr776Met)	ITGA7, LOC126861535 (T780M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1369811	NM_002206.3(ITGA7):c.2471T>G (p.Val824Gly)	ITGA7, LOC126861535 (V731G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1364728	NM_002206.3(ITGA7):c.2136G>C (p.Gln712His)	ITGA7, LOC126861535 (Q619H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1358461	NM_002206.3(ITGA7):c.2006A>G (p.Asp669Gly)	ITGA7, LOC126861535 (D663G +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1348148	NM_002206.3(ITGA7):c.2387C>T (p.Ser796Phe)	ITGA7, LOC126861535 (S687F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1324595	NM_002206.3(ITGA7):c.171_181del (p.Leu58fs)	ITGA7 (L58fs)	Deletion (frameshift variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1324594	NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter)	ITGA7 (Q383* +10 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1324592	NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs)	ITGA7 (Y249fs +3 more)	Indel (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1324588	NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter)	ITGA7 (Q161* +12 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1307125	NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro)	ITGA7, LOC126861535 (A362P +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1304405	NM_002206.3(ITGA7):c.2398C>T (p.Arg800Cys)	ITGA7, LOC126861535 (R352C +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183459	NM_001144997.2(ITGA7):c.85+4120G>A	ITGA7, LOC130008028	Single nucleotide variant (intron variant)	not provided	GLikely benign

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