C8G[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058784	NM_000606.3(C8G):c.12del (p.Thr6fs)	C8G (T6fs)	Deletion (frameshift variant)	C8G-related disorder	GLikely benign
Select item 2370878	NM_000606.3(C8G):c.53C>T (p.Ser18Leu)	C8G (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057776	NM_000606.3(C8G):c.54G>A (p.Ser18=)	C8G	Single nucleotide variant (synonymous variant)	C8G-related disorder	GLikely benign
Select item 3031896	NM_000606.3(C8G):c.60C>A (p.Gly20=)	C8G	Single nucleotide variant (synonymous variant)	C8G-related disorder	GLikely benign
Select item 2212570	NM_000606.3(C8G):c.75G>T (p.Arg25Ser)	C8G (R25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521363	NM_000606.3(C8G):c.82C>T (p.Arg28Trp)	C8G (R28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626069	NM_000606.3(C8G):c.93_99dup (p.Ser34fs)	C8G (S34fs)	Duplication (frameshift variant)	Immunodeficiency	GUncertain significance
Select item 3136091	NM_000606.3(C8G):c.166G>T (p.Val56Leu)	C8G (V56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136092	NM_000606.3(C8G):c.204C>A (p.His68Gln)	C8G (H68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253468	NM_000606.3(C8G):c.205C>T (p.Arg69Trp)	C8G (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769761	NM_000606.3(C8G):c.206G>A (p.Arg69Gln)	C8G (R69Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3031389	NM_000606.3(C8G):c.210C>T (p.Ala70=)	C8G	Single nucleotide variant (synonymous variant)	C8G-related disorder	GLikely benign
Select item 3262559	NM_000606.3(C8G):c.221C>T (p.Thr74Ile)	C8G (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059399	NM_000606.3(C8G):c.276-3dup	C8G	Duplication (intron variant)	C8G-related disorder	GBenign
Select item 3044877	NM_000606.3(C8G):c.276-10G>A	C8G	Single nucleotide variant (intron variant)	C8G-related disorder	GLikely benign
Select item 2659761	NM_000606.3(C8G):c.276-3C>T	C8G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2287478	NM_000606.3(C8G):c.304C>G (p.Leu102Val)	C8G (L102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 636372	NM_000606.3(C8G):c.318_319del (p.Val108fs)	C8G (V108fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2212576	NM_000606.3(C8G):c.350G>A (p.Arg117Gln)	C8G (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252291	NM_000606.3(C8G):c.392A>T (p.Asp131Val)	C8G (D131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262560	NM_000606.3(C8G):c.409G>A (p.Val137Ile)	C8G (V137I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042109	NM_000606.3(C8G):c.453C>T (p.Tyr151=)	C8G	Single nucleotide variant (synonymous variant)	C8G-related disorder	GLikely benign
Select item 3262557	NM_000606.3(C8G):c.457C>T (p.Arg153Cys)	C8G (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048877	NM_000606.3(C8G):c.462G>A (p.Ser154=)	C8G	Single nucleotide variant (synonymous variant)	C8G-related disorder	GLikely benign
Select item 2527272	NM_000606.3(C8G):c.475G>A (p.Asp159Asn)	C8G (D159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292792	NM_000606.3(C8G):c.490G>A (p.Gly164Arg)	C8G (G164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827972	NM_000606.3(C8G):c.541T>C (p.Tyr181His)	C8G (Y181H)	Single nucleotide variant (missense variant)	Immunodeficiency	GUncertain significance
Select item 2385046	NM_000606.3(C8G):c.548C>T (p.Pro183Leu)	C8G (P183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039444	NM_000606.3(C8G):c.555C>T (p.Tyr185=)	C8G	Single nucleotide variant (synonymous variant)	C8G-related disorder	GBenign
Select item 3262558	NM_000606.3(C8G):c.565G>C (p.Glu189Gln)	C8G (E189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285063	NM_000606.3(C8G):c.586G>A (p.Val196Ile)	C8G (V196I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3040936	NM_000606.3(C8G):c.*5G>A	C8G	Single nucleotide variant (3 prime UTR variant)	C8G-related disorder	GLikely benign

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Items: 32