MYBPHL[gene] and "single gene"[properties] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268365	NM_001010985.3(MYBPHL):c.*33+36C>G	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245843	NM_001010985.3(MYBPHL):c.*26T>C	MYBPHL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222087	NM_001010985.3(MYBPHL):c.*19G>C	MYBPHL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287601	NM_001010985.3(MYBPHL):c.1054+182T>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276114	NM_001010985.3(MYBPHL):c.1054+25C>T	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2235701	NM_001010985.3(MYBPHL):c.1040G>A (p.Arg347Gln)	MYBPHL (R347Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216577	NM_001010985.3(MYBPHL):c.1004C>T (p.Ala335Val)	MYBPHL (A312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392218	NM_001010985.3(MYBPHL):c.977T>C (p.Phe326Ser)	MYBPHL (F303S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490485	NM_001010985.3(MYBPHL):c.946T>C (p.Cys316Arg)	MYBPHL (C316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264859	NM_001010985.3(MYBPHL):c.868-197G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282714	NM_001010985.3(MYBPHL):c.867+23A>G	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253160	NM_001010985.3(MYBPHL):c.805G>A (p.Asp269Asn)	MYBPHL (D246N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2309942	NM_001010985.3(MYBPHL):c.778G>A (p.Ala260Thr)	MYBPHL (A237T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 994289	NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter)	MYBPHL (R232* +1 more)	Single nucleotide variant (nonsense)	Brugada syndrome +1 more	GUncertain significance
Select item 1238412	NM_001010985.3(MYBPHL):c.731-86dup	MYBPHL	Duplication (intron variant)	not provided	GBenign
Select item 1268940	NM_001010985.3(MYBPHL):c.731-72del	MYBPHL	Deletion (intron variant)	not provided	GBenign
Select item 1180903	NM_001010985.3(MYBPHL):c.730+13T>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289852	NM_001010985.3(MYBPHL):c.730+5G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3154431	NM_001010985.3(MYBPHL):c.722A>G (p.Gln241Arg)	MYBPHL (Q218R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154427	NM_001010985.3(MYBPHL):c.712G>A (p.Ala238Thr)	MYBPHL (A215T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297247	NM_001010985.3(MYBPHL):c.709C>T (p.Leu237Phe)	MYBPHL (L237F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265135	NM_001010985.3(MYBPHL):c.704C>T (p.Thr235Met)	MYBPHL (T212M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265643	NM_001010985.3(MYBPHL):c.702T>C (p.Thr234=)	MYBPHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3154423	NM_001010985.3(MYBPHL):c.676G>A (p.Gly226Arg)	MYBPHL (G226R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254768	NM_001010985.3(MYBPHL):c.664G>A (p.Glu222Lys)	MYBPHL (E199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462800	NM_001010985.3(MYBPHL):c.625C>A (p.Leu209Ile)	MYBPHL (L186I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154422	NM_001010985.3(MYBPHL):c.616G>A (p.Val206Ile)	MYBPHL (V206I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410677	NM_001010985.3(MYBPHL):c.602G>A (p.Arg201His)	MYBPHL (R201H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2605259	NM_001010985.3(MYBPHL):c.600C>G (p.His200Gln)	MYBPHL (H200Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154415	NM_001010985.3(MYBPHL):c.596A>T (p.Tyr199Phe)	MYBPHL (Y199F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398744	NM_001010985.3(MYBPHL):c.568G>C (p.Gly190Arg)	MYBPHL (G167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367681	NM_001010985.3(MYBPHL):c.515C>T (p.Thr172Met)	MYBPHL (T149M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245740	NM_001010985.3(MYBPHL):c.504G>T (p.Pro168=)	MYBPHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2244536	NM_001010985.3(MYBPHL):c.491T>C (p.Leu164Pro)	MYBPHL (L141P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207926	NM_001010985.3(MYBPHL):c.475G>A (p.Gly159Ser)	MYBPHL (G159S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2206473	NM_001010985.3(MYBPHL):c.468C>G (p.Asp156Glu)	MYBPHL (D133E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288413	NM_001010985.3(MYBPHL):c.431-85G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244358	NM_001010985.3(MYBPHL):c.430+90C>G	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2333900	NM_001010985.3(MYBPHL):c.388G>C (p.Gly130Arg)	MYBPHL (G130R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154393	NM_001010985.3(MYBPHL):c.365G>A (p.Arg122His)	MYBPHL (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154391	NM_001010985.3(MYBPHL):c.350G>A (p.Arg117His)	MYBPHL (R117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154388	NM_001010985.3(MYBPHL):c.304C>T (p.Arg102Trp)	MYBPHL (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209619	NM_001010985.3(MYBPHL):c.296T>C (p.Val99Ala)	MYBPHL (V99A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297246	NM_001010985.3(MYBPHL):c.282G>T (p.Leu94Phe)	MYBPHL (L94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300395	NM_001010985.3(MYBPHL):c.270T>A (p.Asp90Glu)	MYBPHL (D90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297248	NM_001010985.3(MYBPHL):c.252A>C (p.Gln84His)	MYBPHL (Q84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294853	NM_001010985.3(MYBPHL):c.234+162C>T	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285910	NM_001010985.3(MYBPHL):c.234+74G>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252065	NM_001010985.3(MYBPHL):c.212T>G (p.Val71Gly)	MYBPHL (V71G)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 2509217	NM_001010985.3(MYBPHL):c.170G>A (p.Arg57Gln)	MYBPHL (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241147	NM_001010985.3(MYBPHL):c.169C>T (p.Arg57Trp)	MYBPHL (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589275	NM_001010985.3(MYBPHL):c.160T>C (p.Trp54Arg)	MYBPHL (W54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484489	NM_001010985.3(MYBPHL):c.148C>A (p.His50Asn)	MYBPHL (H50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230430	NM_001010985.3(MYBPHL):c.146-39G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287525	NM_001010985.3(MYBPHL):c.146-192C>T	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220998	NM_001010985.3(MYBPHL):c.145+215T>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3154439	NM_001010985.3(MYBPHL):c.80C>T (p.Pro27Leu)	MYBPHL (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221530	NM_001010985.3(MYBPHL):c.68C>T (p.Ala23Val)	MYBPHL (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272987	NM_001010985.3(MYBPHL):c.16G>A (p.Ala6Thr)	MYBPHL (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 59