LOC129929037[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 2183158	NM_175875.5(SIX5):c.264C>G (p.Pro88=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	DM1-AS, LOC107075317 +2 more (F86L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2631829	NM_175875.5(SIX5):c.251T>A (p.Leu84His)	DM1-AS, LOC107075317 +2 more (L84H)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1318014	NM_175875.5(SIX5):c.238C>T (p.Pro80Ser)	DM1-AS, LOC107075317 +2 more (P80S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2630538	NM_175875.5(SIX5):c.237A>T (p.Glu79Asp)	LOC107075317, DM1-AS +2 more (E79D)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 1318058	NM_175875.5(SIX5):c.233C>T (p.Ser78Phe)	DM1-AS, LOC107075317 +2 more (S78F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2534567	NM_175875.5(SIX5):c.232T>G (p.Ser78Ala)	DM1-AS, LOC107075317 +2 more (S78A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548932	NM_175875.5(SIX5):c.230C>T (p.Ala77Val)	DM1-AS, LOC107075317 +2 more (A77V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2243357	NM_175875.5(SIX5):c.224A>C (p.Glu75Ala)	DM1-AS, LOC107075317 +2 more (E75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	SIX5, DM1-AS +2 more (E75V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2534566	NM_175875.5(SIX5):c.221C>G (p.Pro74Arg)	DM1-AS, LOC107075317 +2 more (P74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2778062	NM_175875.5(SIX5):c.218C>T (p.Pro73Leu)	DM1-AS, LOC107075317 +2 more (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043065	NM_175875.5(SIX5):c.217C>T (p.Pro73Ser)	DM1-AS, LOC107075317 +2 more (P73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500193	NM_175875.5(SIX5):c.213G>T (p.Gly71=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3239192	NM_175875.5(SIX5):c.210C>G (p.Pro70=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302707	NM_175875.5(SIX5):c.209C>G (p.Pro70Arg)	DM1-AS, LOC107075317 +2 more (P70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1957822	NM_175875.5(SIX5):c.198C>T (p.Ser66=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3162585	NM_175875.5(SIX5):c.197C>T (p.Ser66Phe)	DM1-AS, LOC107075317 +2 more (S66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162584	NM_175875.5(SIX5):c.197C>A (p.Ser66Tyr)	DM1-AS, LOC107075317 +2 more (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317730	NM_175875.5(SIX5):c.191C>T (p.Pro64Leu)	DM1-AS, LOC107075317 +2 more (P64L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2967651	NM_175875.5(SIX5):c.182C>T (p.Ala61Val)	DM1-AS, LOC107075317 +2 more (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163900	NM_175875.5(SIX5):c.179G>T (p.Gly60Val)	DM1-AS, LOC107075317 +2 more (G60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786662	NM_175875.5(SIX5):c.170C>A (p.Ala57Glu)	DM1-AS, LOC107075317 +2 more (A57E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708640	NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4])	DM1-AS, LOC107075317 +2 more	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2085283	NM_175875.5(SIX5):c.161C>T (p.Ala54Val)	DM1-AS, LOC107075317 +2 more (A54V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2807329	NM_175875.5(SIX5):c.151G>A (p.Gly51Arg)	DM1-AS, LOC107075317 +2 more (G51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989437	NM_175875.5(SIX5):c.135GGC[6] (p.Ala50_Gly51insAla)	DM1-AS, LOC107075317 +2 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3060057	NM_175875.5(SIX5):c.135GGC[4] (p.Ala50del)	DM1-AS, LOC107075317 +2 more (A50del)	Microsatellite (inframe deletion)	SIX5-related disorder	GLikely benign
Select item 1621771	NM_175875.5(SIX5):c.111G>A (p.Gln37=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318265	NM_175875.5(SIX5):c.108G>A (p.Leu36=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 723032	NM_175875.5(SIX5):c.99C>T (p.Arg33=)	SIX5, DM1-AS +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317703	NM_175875.5(SIX5):c.78A>G (p.Glu26=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 36