4139[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 57437	GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3	EHD4, EHD4-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2613855	NM_015497.5(TMEM87A):c.101T>C (p.Val34Ala)	GANC, LOC130056919 +1 more (V34A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327202	NM_015497.5(TMEM87A):c.97A>G (p.Thr33Ala)	GANC, LOC130056919 +1 more (T33A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327198	NM_015497.5(TMEM87A):c.67C>T (p.Pro23Ser)	GANC, LOC130056919 +1 more (P23S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327199	NM_015497.5(TMEM87A):c.62C>T (p.Pro21Leu)	GANC, LOC130056919 +1 more (P21L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3179684	NM_015497.5(TMEM87A):c.58C>T (p.His20Tyr)	GANC, LOC130056919 +1 more (H20Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2266680	NM_198141.3(GANC):c.95G>A (p.Arg32His)	GANC (R32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266620	NM_198141.3(GANC):c.136T>G (p.Leu46Val)	GANC (L46V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405166	NM_198141.3(GANC):c.224A>G (p.Tyr75Cys)	GANC (Y75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538474	NM_198141.3(GANC):c.257T>C (p.Ile86Thr)	GANC (I86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775354	NM_198141.3(GANC):c.262G>A (p.Glu88Lys)	GANC (E88K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3280689	NM_198141.3(GANC):c.266A>G (p.Glu89Gly)	GANC (E89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329728	NM_198141.3(GANC):c.386A>G (p.Asp129Gly)	GANC (D129G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619175	NM_198141.3(GANC):c.400A>C (p.Ile134Leu)	GANC (I134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245498	NM_198141.3(GANC):c.411C>A (p.Asn137Lys)	GANC (N137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769877	NM_198141.3(GANC):c.496A>G (p.Ile166Val)	GANC (I166V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2372657	NM_198141.3(GANC):c.692A>G (p.His231Arg)	GANC (H231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479667	NM_198141.3(GANC):c.761A>G (p.Tyr254Cys)	GANC (Y254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596593	NM_198141.3(GANC):c.775T>C (p.Tyr259His)	GANC (Y259H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098302	NM_198141.3(GANC):c.786G>A (p.Met262Ile)	GANC (M262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280690	NM_198141.3(GANC):c.898G>A (p.Val300Ile)	GANC (V300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098303	NM_198141.3(GANC):c.920T>C (p.Met307Thr)	GANC (M307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472583	NM_198141.3(GANC):c.1175A>T (p.Tyr392Phe)	GANC (Y392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098295	NM_198141.3(GANC):c.1273C>A (p.Leu425Ile)	GANC (L425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375349	NM_198141.3(GANC):c.1289G>A (p.Arg430His)	GANC (R430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533929	NM_198141.3(GANC):c.1403A>T (p.Glu468Val)	GANC (E468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470263	NM_198141.3(GANC):c.1456G>A (p.Val486Ile)	GANC (V486I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264916	NM_198141.3(GANC):c.1539T>A (p.Asn513Lys)	GANC (N513K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328846	NM_198141.3(GANC):c.1601A>T (p.Asn534Ile)	GANC (N534I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410930	NM_198141.3(GANC):c.1616A>C (p.Glu539Ala)	GANC (E539A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252302	NM_198141.3(GANC):c.1657G>A (p.Ala553Thr)	GANC (A553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757645	NM_198141.3(GANC):c.1741+7A>G	GANC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2344672	NM_198141.3(GANC):c.1795A>G (p.Ile599Val)	GANC (I599V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394617	NM_198141.3(GANC):c.1892G>A (p.Arg631His)	GANC (R631H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098296	NM_198141.3(GANC):c.1940C>A (p.Thr647Asn)	GANC (T647N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599914	NM_198141.3(GANC):c.1968G>C (p.Trp656Cys)	GANC (W656C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098298	NM_198141.3(GANC):c.2017C>T (p.Arg673Cys)	GANC (R673C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098299	NM_198141.3(GANC):c.2132T>C (p.Met711Thr)	GANC (M711T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516614	NM_198141.3(GANC):c.2195C>T (p.Thr732Ile)	GANC (T732I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098300	NM_198141.3(GANC):c.2215C>T (p.Pro739Ser)	GANC (P739S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280687	NM_198141.3(GANC):c.2285T>C (p.Ile762Thr)	GANC (I762T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280691	NM_198141.3(GANC):c.2324G>T (p.Gly775Val)	GANC (G775V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358365	NM_198141.3(GANC):c.2330G>A (p.Ser777Asn)	GANC (S777N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528790	NM_198141.3(GANC):c.2374A>G (p.Met792Val)	GANC (M792V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280688	NM_198141.3(GANC):c.2398C>T (p.Arg800Trp)	GANC (R800W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579221	GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1	CAPN3, GANC	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2257676	NM_198141.3(GANC):c.2420G>C (p.Gly807Ala)	GANC (G807A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249616	NM_198141.3(GANC):c.2436G>C (p.Glu812Asp)	GANC (E812D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528567	NM_198141.3(GANC):c.2443C>T (p.Leu815Phe)	GANC (L815F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472832	NM_198141.3(GANC):c.2478G>C (p.Gln826His)	GANC (Q826H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399921	NM_198141.3(GANC):c.2497A>C (p.Lys833Gln)	GANC (K833Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593461	NM_198141.3(GANC):c.2701C>T (p.Leu901Phe)	GANC (L901F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350929	NM_198141.3(GANC):c.2734C>T (p.Arg912Cys)	GANC (R912C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063394	GRCh37/hg19 15q15.1(chr15:42631673-42700221)x1	CAPN3, GANC	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2684756	GRCh37/hg19 15q15.1-15.2(chr15:42629809-43042062)x3	CAPN3, CDAN1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2422299	NC_000015.9:g.(?_42614560)_(42676697_?)del	CAPN3, GANC	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 1526446	GRCh37/hg19 15q15.1(chr15:42631229-42703371)	CAPN3, GANC	Copy number loss	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 67