LY6G5B[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 3061766	NM_001320.7(CSNK2B):c.149T>C (p.Leu50Pro)	CSNK2B, LY6G5B (L50P)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 1253018	NM_001320.7(CSNK2B):c.*104C>T	CSNK2B, LY6G5B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2293597	NM_021221.3(LY6G5B):c.7G>A (p.Val3Ile)	LY6G5B (V3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732236	NM_021221.3(LY6G5B):c.96C>T (p.Leu32=)	LY6G5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349309	NM_021221.3(LY6G5B):c.191T>C (p.Val64Ala)	LY6G5B (V64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403829	NM_021221.3(LY6G5B):c.200G>A (p.Arg67His)	LY6G5B (R67H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381597	NM_021221.3(LY6G5B):c.208G>A (p.Val70Ile)	LY6G5B (V70I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2211274	NM_021221.3(LY6G5B):c.211C>G (p.Arg71Gly)	LY6G5B (R71G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373709	NM_021221.3(LY6G5B):c.238C>T (p.Arg80Cys)	LY6G5B (R80C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377084	NM_021221.3(LY6G5B):c.354G>C (p.Glu118Asp)	LY6G5B (E118D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353743	NM_021221.3(LY6G5B):c.455G>C (p.Gly152Ala)	LY6G5B (G152A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259211	NM_021221.3(LY6G5B):c.461A>G (p.Glu154Gly)	LY6G5B (E154G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207515	NM_021221.3(LY6G5B):c.548A>G (p.Asn183Ser)	LY6G5B (N183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 22