LOC126862493[gene] - ClinVar

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Items: 39

	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 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
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 1184412	NC_000017.11:g.10078000_10512000dup	MYH13, MYH4 +18 more	Duplication	not provided	GUncertain significance
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	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 150569	GRCh38/hg38 17p13.1(chr17:10112898-10444811)x3	GAS7, LOC112529894 +12 more	Copy number gain	See cases	GUncertain significance
Select item 60133	GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3	GAS7, LOC112529894 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147857	GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3	GAS7, LOC112529894 +13 more	Copy number gain	See cases	GUncertain significance
Select item 660152	NC_000017.11:g.(?_10330387)_(10395441_?)del	LOC126862493, MYH13 +2 more	Deletion	not provided	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 2297716	NM_002472.3(MYH8):c.5587A>T (p.Asn1863Tyr)	LOC126862493, MYH8 +1 more (N1863Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328788	NM_002472.3(MYH8):c.5572G>C (p.Glu1858Gln)	LOC126862493, MYH8 +1 more (E1858Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243083	NM_002472.3(MYH8):c.5569-203G>A	LOC126862493, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266347	NM_002472.3(MYH8):c.5568+239G>A	MYH8, MYHAS +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284218	NM_002472.3(MYH8):c.5568+237del	LOC126862493, MYH8 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 884351	NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln)	LOC126862493, MYH8 +1 more (R1848Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321622	NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys)	LOC126862493, MYH8 +1 more (E1847K)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2485864	NM_002472.3(MYH8):c.5538T>A (p.His1846Gln)	LOC126862493, MYH8 +1 more (H1846Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507960	NM_002472.3(MYH8):c.5531G>A (p.Arg1844Gln)	LOC126862493, MYH8 +1 more (R1844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445512	NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)	LOC126862493, MYH8 +1 more (E1838A)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign/Likely benign
Select item 720755	NM_002472.3(MYH8):c.5508T>C (p.Asn1836=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722469	NM_002472.3(MYH8):c.5504G>A (p.Arg1835His)	LOC126862493, MYH8 +1 more (R1835H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 258723	NM_002472.3(MYH8):c.5484G>A (p.Glu1828=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 258722	NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile)	LOC126862493, MYH8 +1 more (V1822I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 258721	NM_002472.3(MYH8):c.5463+20T>C	LOC126862493, MYH8 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 785554	NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val)	LOC126862493, MYH8 +1 more (A1820V)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2380396	NM_002472.3(MYH8):c.5442G>C (p.Gln1814His)	LOC126862493, MYH8 +1 more (Q1814H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 321623	NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg)	MYH8, MYHAS +1 more (K1812R)	Single nucleotide variant (missense variant)	Hecht syndrome	GLikely benign
Select item 708149	NM_002472.3(MYH8):c.5421G>A (p.Ala1807=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733704	NM_002472.3(MYH8):c.5376G>A (p.Thr1792=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546789	NM_002472.3(MYH8):c.5350C>T (p.Arg1784Trp)	LOC126862493, MYH8 +1 more (R1784W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211567	NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)	LOC126862493, MYH8 +1 more (R1784G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 872643	NM_002472.3(MYH8):c.5323G>A (p.Glu1775Lys)	LOC126862493, MYH8 +1 more (E1775K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158963	NM_002472.3(MYH8):c.5296G>T (p.Ala1766Ser)	LOC126862493, MYH8 +1 more (A1766S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 397649	NM_002472.3(MYH8):c.5293-1G>A	LOC126862493, MYH8 +1 more	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 2234856	NM_002472.3(MYH8):c.5281G>A (p.Ala1761Thr)	LOC126862493, MYH8 +1 more (A1761T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39