ClinVar for Gene (Select 126862494) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343149	NM_002472.3(MYH8):c.3364G>C (p.Gly1122Arg)	LOC126862494, MYH8 +1 more (G1122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158868	NM_002472.3(MYH8):c.3602A>G (p.Asp1201Gly)	LOC126862494, MYH8 +1 more (D1201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158852	NM_002472.3(MYH8):c.3209T>C (p.Met1070Thr)	LOC126862494, MYH8 +1 more (M1070T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158844	NM_002472.3(MYH8):c.3134A>G (p.Lys1045Arg)	LOC126862494, MYH8 +1 more (K1045R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691543	NM_002472.3(MYH8):c.3137A>C (p.Lys1046Thr)	LOC126862494, MYH8 +1 more (K1046T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630478	NM_002472.3(MYH8):c.2998_2999delinsGC (p.Lys1000Ala)	LOC126862494, MYH8 +1 more (K1000A)	Indel (missense variant)	MYH8-related disorder	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2433947	NM_002472.3(MYH8):c.3101T>C (p.Val1034Ala)	LOC126862494, MYH8 +1 more (V1034A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350680	NM_002472.3(MYH8):c.2825A>G (p.Lys942Arg)	LOC126862494, MYH8 +1 more (K942R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339562	NM_002472.3(MYH8):c.3392C>T (p.Ser1131Phe)	LOC126862494, MYH8 +1 more (S1131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319869	NM_002472.3(MYH8):c.2777C>A (p.Thr926Asn)	LOC126862494, MYH8 +1 more (T926N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318529	NM_002472.3(MYH8):c.3147G>A (p.Met1049Ile)	LOC126862494, MYH8 +1 more (M1049I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316445	NM_002472.3(MYH8):c.3560A>G (p.Gln1187Arg)	LOC126862494, MYH8 +1 more (Q1187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308292	NM_002472.3(MYH8):c.3304G>A (p.Ala1102Thr)	LOC126862494, MYH8 +1 more (A1102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277606	NM_002472.3(MYH8):c.3433G>A (p.Glu1145Lys)	LOC126862494, MYH8 +1 more (E1145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283964	NM_002472.3(MYH8):c.3345+36A>G	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184412	NC_000017.11:g.10078000_10512000dup	MYH13, MYH4 +18 more	Duplication	not provided	GUncertain significance
Select item 1098572	GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3	GAS7, LOC112529894 +18 more	Copy number gain	See cases	GUncertain significance
Select item 887436	NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val)	LOC126862494, MYH8 +1 more (L1051V)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 886432	NM_002472.3(MYH8):c.3408G>A (p.Glu1136=)	MYHAS, LOC126862494 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 886431	NM_002472.3(MYH8):c.3423C>T (p.Asp1141=)	MYH8, MYHAS +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 884410	NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser)	LOC126862494, MYH8 +1 more (G1157S)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 808228	NM_002472.3(MYH8):c.2779G>C (p.Glu927Gln)	LOC126862494, MYH8 +1 more (E927Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754005	NM_002472.3(MYH8):c.2998A>G (p.Lys1000Glu)	LOC126862494, MYH8 +1 more (K1000E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 754004	NM_002472.3(MYH8):c.2999A>C (p.Lys1000Thr)	LOC126862494, MYH8 +1 more (K1000T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737147	NM_002472.3(MYH8):c.3554C>G (p.Thr1185Ser)	LOC126862494, MYH8 +1 more (T1185S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 726862	NM_002472.3(MYH8):c.3346-8A>G	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710105	NM_002472.3(MYH8):c.3513G>A (p.Glu1171=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709615	NM_002472.3(MYH8):c.3576G>A (p.Val1192=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 397646	NM_002472.3(MYH8):c.3320del (p.Leu1107fs)	LOC126862494, MYH8 +1 more (L1107fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321642	NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)	LOC126862494, MYH8 +1 more (E931K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 321641	NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys)	LOC126862494, MYH8 +1 more (S996C)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321640	NM_002472.3(MYH8):c.3254+8C>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321639	NM_002472.3(MYH8):c.3255-8G>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321638	NM_002472.3(MYH8):c.3340T>C (p.Leu1114=)	MYH8, MYHAS +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321637	NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln)	LOC126862494, MYHAS +1 more (E1126Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321636	NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser)	LOC126862494, MYH8 +1 more (A1130S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321635	NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr)	LOC126862494, MYH8 +1 more (A1184T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 258719	NM_002472.3(MYH8):c.3108+20C>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 211563	NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)	LOC126862494, MYH8 +1 more (R1178C)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GUncertain significance
Select item 211562	NM_002472.3(MYH8):c.3254+1G>T	LOC126862494, MYH8 +1 more	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 211561	NM_002472.3(MYH8):c.3019del (p.Gln1007fs)	MYH8, MYHAS +1 more (Q1007fs)	Deletion (frameshift variant)	not specified	GUncertain significance
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 150569	GRCh38/hg38 17p13.1(chr17:10112898-10444811)x3	GAS7, LOC112529894 +12 more	Copy number gain	See cases	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 147857	GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3	GAS7, LOC112529894 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 129674	NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 129673	NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)	MYHAS, LOC126862494 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 60133	GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3	GAS7, LOC112529894 +14 more	Copy number gain	See cases	GUncertain significance
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 53