93649[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 689482	NC_000017.11:g.12269251_12706280del	LINC00670, LOC125177420 +5 more	Deletion	Prune belly syndrome +1 more	GPathogenic
Select item 3235931	GRCh38/hg38 17p12(chr17:12453983-12791857)	ARHGAP44, ARHGAP44-AS1 +7 more	Copy number loss	Megabladder, congenital	GLikely pathogenic
Select item 1289485	NC_000017.11:g.12665560A>T	MYOCD	Single nucleotide variant	not provided	GBenign
Select item 1253022	NC_000017.11:g.12665754T>C	MYOCD	Single nucleotide variant	not provided	GBenign
Select item 1222452	NM_001146312.3(MYOCD):c.-64G>A	MYOCD	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3297982	NM_001146312.3(MYOCD):c.7C>T (p.Leu3Phe)	MYOCD (L3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1182207	NM_001146312.3(MYOCD):c.56-174T>C	MYOCD, MYOCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3167511	NM_001146312.3(MYOCD):c.82A>G (p.Arg28Gly)	MYOCD, MYOCD-AS1 (R28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235702	NM_001146312.3(MYOCD):c.109G>C (p.Gly37Arg)	MYOCD, MYOCD-AS1 (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1222172	NM_001146312.3(MYOCD):c.122-209_122-208insCT	MYOCD	Insertion (intron variant)	not provided	GBenign
Select item 1265097	NM_001146312.3(MYOCD):c.122-156G>C	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768833	NM_001146312.3(MYOCD):c.226G>A (p.Asp76Asn)	MYOCD (D76N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3377179	NM_001146312.3(MYOCD):c.232del (p.Val78fs)	MYOCD (V78fs)	Deletion (frameshift variant +1 more)	Megabladder, congenital	GLikely pathogenic
Select item 1225489	NM_001146312.3(MYOCD):c.253+23A>G	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229503	NM_001146312.3(MYOCD):c.253+159G>A	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245866	NM_001146312.3(MYOCD):c.254-238G>A	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689480	NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)	MYOCD (R115* +1 more)	Single nucleotide variant (nonsense)	Megabladder, congenital +1 more	GPathogenic
Select item 2554680	NM_001146312.3(MYOCD):c.358G>A (p.Glu120Lys)	MYOCD (E120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318396	NM_001146312.3(MYOCD):c.359A>G (p.Glu120Gly)	MYOCD (E120G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1220717	NM_001146312.3(MYOCD):c.416-184T>C	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779171	NM_001146312.3(MYOCD):c.423G>A (p.Gln141=)	MYOCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1301582	NM_001146312.3(MYOCD):c.506G>A (p.Ser169Asn)	MYOCD (S169N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 100828	NM_001146312.3(MYOCD):c.543C>T (p.Asp181=)	MYOCD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1262861	NM_001146312.3(MYOCD):c.592-253TA[5]	MYOCD	Microsatellite (intron variant)	not provided	GBenign
Select item 2593820	NM_001146312.3(MYOCD):c.659C>T (p.Ala220Val)	MYOCD (A220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689495	NM_001146312.3(MYOCD):c.684dup (p.Ser229fs)	MYOCD (S229fs +1 more)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 689479	NM_001146312.2(MYOCD):c.[1589A>G;684dup]	MYOCD (S229fs +3 more)	Duplication (frameshift variant +1 more)	Prune belly syndrome	GPathogenic
Select item 3297981	NM_001146312.3(MYOCD):c.679C>G (p.Pro227Ala)	MYOCD (P227A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297984	NM_001146312.3(MYOCD):c.712G>A (p.Val238Ile)	MYOCD (V238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264358	NM_001146312.3(MYOCD):c.717+245T>C	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221524	NM_001146312.3(MYOCD):c.718-92A>G	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181987	NM_001146312.3(MYOCD):c.718-10T>C	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3167501	NM_001146312.3(MYOCD):c.725C>A (p.Ser242Tyr)	MYOCD (S242Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167506	NM_001146312.3(MYOCD):c.761A>G (p.Lys254Arg)	MYOCD (K254R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342951	NM_001146312.3(MYOCD):c.818A>G (p.Gln273Arg)	MYOCD (Q194R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167512	NM_001146312.3(MYOCD):c.868C>G (p.Leu290Val)	MYOCD (L211V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345161	NM_001146312.3(MYOCD):c.935G>A (p.Arg312Gln)	MYOCD (R233Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328432	NM_001146312.3(MYOCD):c.971+3_971+6del	MYOCD	Microsatellite (splice donor variant)	Megabladder, congenital	GLikely pathogenic
Select item 1287815	NM_001146312.3(MYOCD):c.971+235T>C	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3297977	NM_001146312.3(MYOCD):c.986A>G (p.Gln329Arg)	MYOCD (Q329R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617828	NM_001146312.3(MYOCD):c.991G>C (p.Val331Leu)	MYOCD (V252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297980	NM_001146312.3(MYOCD):c.1016C>T (p.Thr339Met)	MYOCD (T260M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348082	NM_001146312.3(MYOCD):c.1031C>T (p.Thr344Ile)	MYOCD (T265I +1 more)	Single nucleotide variant (missense variant)	MYOCD-related condition	GLikely benign
Select item 689481	NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs)	MYOCD (N351fs +1 more)	Deletion (frameshift variant)	Megabladder, congenital +1 more	GPathogenic
Select item 1231799	NM_001146312.3(MYOCD):c.1125+271G>A	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3350448	NM_001146312.3(MYOCD):c.1146G>A (p.Gln382=)	MYOCD	Single nucleotide variant (synonymous variant)	MYOCD-related condition	GLikely benign
Select item 2499887	NM_001146312.3(MYOCD):c.1208C>T (p.Pro403Leu)	MYOCD (P324L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167395	NM_001146312.3(MYOCD):c.1226G>T (p.Gly409Val)	MYOCD (G409V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183354	NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val)	MYOCD (I418V +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2390197	NM_001146312.3(MYOCD):c.1256C>T (p.Thr419Met)	MYOCD (T340M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609816	NM_001146312.3(MYOCD):c.1415C>G (p.Pro472Arg)	MYOCD (P393R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297978	NM_001146312.3(MYOCD):c.1436C>G (p.Ser479Cys)	MYOCD (S479C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479065	NM_001146312.3(MYOCD):c.1439C>A (p.Pro480His)	MYOCD (P480H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707960	NM_001146312.3(MYOCD):c.1447G>A (p.Gly483Ser)	MYOCD (G483S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3167405	NM_001146312.3(MYOCD):c.1465G>T (p.Val489Phe)	MYOCD (V410F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167407	NM_001146312.3(MYOCD):c.1471G>A (p.Val491Met)	MYOCD (V412M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310183	NM_001146312.3(MYOCD):c.1493T>C (p.Met498Thr)	MYOCD (M419T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235452	NM_001146312.3(MYOCD):c.1506T>C (p.Asn502=)	MYOCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3167413	NM_001146312.3(MYOCD):c.1519C>T (p.Pro507Ser)	MYOCD (P507S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167417	NM_001146312.3(MYOCD):c.1546G>A (p.Glu516Lys)	MYOCD (E437K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167421	NM_001146312.3(MYOCD):c.1553A>G (p.Asp518Gly)	MYOCD (D439G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167427	NM_001146312.3(MYOCD):c.1564G>A (p.Val522Met)	MYOCD (V443M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689496	NM_001146312.3(MYOCD):c.1589A>G (p.Glu530Gly)	MYOCD (E530G +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3025973	NM_001146312.3(MYOCD):c.1628A>G (p.Glu543Gly)	MYOCD (E464G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552373	NM_001146312.3(MYOCD):c.1685C>T (p.Pro562Leu)	MYOCD (P483L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377918	NM_001146312.3(MYOCD):c.1734C>A (p.Ser578Arg)	MYOCD (S578R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377919	NM_001146312.3(MYOCD):c.1735T>G (p.Cys579Gly)	MYOCD (C500G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224397	NM_001146312.3(MYOCD):c.1748C>T (p.Ser583Phe)	MYOCD (S504F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361103	NM_001146312.3(MYOCD):c.1801T>C (p.Cys601Arg)	MYOCD (C522R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281605	NM_001146312.3(MYOCD):c.1812T>C (p.Ala604=)	MYOCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610583	NM_001146312.3(MYOCD):c.1843G>A (p.Val615Met)	MYOCD (V536M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647492	NM_001146312.3(MYOCD):c.1885C>A (p.Leu629Ile)	MYOCD (L550I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3297983	NM_001146312.3(MYOCD):c.1886T>C (p.Leu629Pro)	MYOCD (L550P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167449	NM_001146312.3(MYOCD):c.1916C>T (p.Pro639Leu)	MYOCD (P639L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713293	NM_001146312.3(MYOCD):c.1917G>A (p.Pro639=)	MYOCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1257154	NM_001146312.3(MYOCD):c.1941G>C (p.Gln647His)	MYOCD (Q568H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2464609	NM_001146312.3(MYOCD):c.1952T>G (p.Leu651Trp)	MYOCD (L651W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411041	NM_001146312.3(MYOCD):c.1966A>C (p.Asn656His)	MYOCD (N577H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531993	NM_001146312.3(MYOCD):c.2000C>T (p.Ala667Val)	MYOCD (A588V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297985	NM_001146312.3(MYOCD):c.2044G>T (p.Val682Leu)	MYOCD (V603L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225965	NM_001146312.3(MYOCD):c.2058+48G>A	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265493	NM_001146312.3(MYOCD):c.2058+151C>A	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263840	NM_001146312.3(MYOCD):c.2058+152C>T	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267010	NM_001146312.3(MYOCD):c.2059-232C>T	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319687	NM_001146312.3(MYOCD):c.2073C>A (p.His691Gln)	MYOCD (H691Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647493	NM_001146312.3(MYOCD):c.2074G>A (p.Asp692Asn)	MYOCD (D613N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2314512	NM_001146312.3(MYOCD):c.2078G>C (p.Gly693Ala)	MYOCD (G693A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208243	NM_001146312.3(MYOCD):c.2102A>G (p.His701Arg)	MYOCD (H622R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 786432	NM_001146312.3(MYOCD):c.2118C>T (p.His706=)	MYOCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2216155	NM_001146312.3(MYOCD):c.2185C>G (p.Pro729Ala)	MYOCD (P650A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1265297	NM_001146312.3(MYOCD):c.2202+232G>A	MYOCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647494	NM_001146312.3(MYOCD):c.2225A>G (p.Asp742Gly)	MYOCD (D663G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272626	NM_001146312.3(MYOCD):c.2332-271G>A	MYOCD, ARHGAP44-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277125	NM_001146312.3(MYOCD):c.2332-246G>T	ARHGAP44-AS1, MYOCD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1268409	NM_001146312.3(MYOCD):c.2332-126C>T	ARHGAP44-AS1, MYOCD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2270670	NM_001146312.3(MYOCD):c.2342G>A (p.Arg781Gln)	ARHGAP44-AS1, MYOCD (R702Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1279478	NM_001146312.3(MYOCD):c.2389+153T>C	ARHGAP44-AS1, MYOCD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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