GGNBP2[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2269905	NM_024835.5(GGNBP2):c.45C>A (p.Phe15Leu)	GGNBP2 (F15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511025	NM_024835.5(GGNBP2):c.74A>G (p.Tyr25Cys)	GGNBP2 (Y25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099611	NM_024835.5(GGNBP2):c.118G>A (p.Val40Met)	GGNBP2 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607290	NM_024835.5(GGNBP2):c.374C>T (p.Thr125Ile)	GGNBP2 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339760	NM_024835.5(GGNBP2):c.377G>A (p.Arg126Lys)	GGNBP2 (R126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099614	NM_024835.5(GGNBP2):c.421G>A (p.Val141Ile)	GGNBP2 (V141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099615	NM_024835.5(GGNBP2):c.429G>A (p.Gly143=)	GGNBP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3055826	NM_024835.5(GGNBP2):c.528-4A>G	GGNBP2	Single nucleotide variant (intron variant)	GGNBP2-related disorder	GBenign
Select item 2322275	NM_024835.5(GGNBP2):c.530G>A (p.Gly177Asp)	GGNBP2 (G177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099617	NM_024835.5(GGNBP2):c.596C>T (p.Ser199Leu)	GGNBP2 (S199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343113	NM_024835.5(GGNBP2):c.769C>T (p.Arg257Ter)	GGNBP2 (R257*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 3099618	NM_024835.5(GGNBP2):c.826G>A (p.Glu276Lys)	GGNBP2 (E276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099619	NM_024835.5(GGNBP2):c.835T>C (p.Phe279Leu)	GGNBP2 (F279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569987	NM_024835.5(GGNBP2):c.923A>G (p.Glu308Gly)	GGNBP2 (E308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314665	NM_024835.5(GGNBP2):c.1155T>G (p.Cys385Trp)	GGNBP2 (C385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407711	NM_024835.5(GGNBP2):c.1171A>G (p.Thr391Ala)	GGNBP2 (T391A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392878	NM_024835.5(GGNBP2):c.1180C>A (p.Gln394Lys)	GGNBP2 (Q394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365229	NM_024835.5(GGNBP2):c.1187C>T (p.Ala396Val)	GGNBP2 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099612	NM_024835.5(GGNBP2):c.1301A>G (p.Asn434Ser)	GGNBP2 (N434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398451	NM_024835.5(GGNBP2):c.1337A>G (p.Asn446Ser)	GGNBP2 (N446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099613	NM_024835.5(GGNBP2):c.1362G>C (p.Lys454Asn)	GGNBP2 (K454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550033	NM_024835.5(GGNBP2):c.1582A>G (p.Thr528Ala)	GGNBP2 (T528A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059591	NM_024835.5(GGNBP2):c.1608G>A (p.Lys536=)	GGNBP2	Single nucleotide variant (synonymous variant)	GGNBP2-related disorder	GBenign
Select item 2490860	NM_024835.5(GGNBP2):c.1643T>C (p.Ile548Thr)	GGNBP2 (I548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250224	NM_024835.5(GGNBP2):c.1682G>A (p.Arg561Gln)	GGNBP2 (R561Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049821	NM_024835.5(GGNBP2):c.1857C>T (p.Ser619=)	GGNBP2	Single nucleotide variant (synonymous variant)	GGNBP2-related disorder	GLikely benign
Select item 3048771	NM_024835.5(GGNBP2):c.2038A>C (p.Asn680His)	GGNBP2 (N680H)	Single nucleotide variant (missense variant)	GGNBP2-related disorder	GUncertain significance
Select item 2519421	NM_024835.5(GGNBP2):c.2075C>A (p.Thr692Lys)	GGNBP2 (T692K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28