"Ambry Genetics"[submitter] AND "GGCX"[gene] - ClinVar

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Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281302	NM_000821.7(GGCX):c.2257C>T (p.Pro753Ser)	GGCX (P753S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099595	NM_000821.7(GGCX):c.2240C>T (p.Pro747Leu)	GGCX (P747L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405036	NM_000821.7(GGCX):c.2216C>T (p.Thr739Met)	GGCX (T682M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2329673	NM_000821.7(GGCX):c.2104T>G (p.Ser702Ala)	GGCX (S702A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 337259	NM_000821.7(GGCX):c.2081G>A (p.Arg694His)	GGCX (R694H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2075521	NM_000821.7(GGCX):c.2015G>A (p.Arg672Gln)	GGCX (R672Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355196	NM_000821.7(GGCX):c.2014C>T (p.Arg672Trp)	GGCX (R672W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2491677	NM_000821.7(GGCX):c.1984C>G (p.Arg662Gly)	GGCX (R662G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397267	NM_000821.7(GGCX):c.1984C>T (p.Arg662Cys)	GGCX (R605C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099593	NM_000821.7(GGCX):c.1931G>C (p.Gly644Ala)	GGCX (G644A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540963	NM_000821.7(GGCX):c.1907C>G (p.Pro636Arg)	GGCX (P579R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099592	NM_000821.7(GGCX):c.1785C>G (p.Ser595Arg)	GGCX (S538R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403904	NM_000821.7(GGCX):c.1682C>A (p.Thr561Asn)	GGCX (T561N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332879	NM_000821.7(GGCX):c.1627T>C (p.Phe543Leu)	GGCX (F486L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789561	NM_000821.7(GGCX):c.1580C>T (p.Thr527Ile)	GGCX (T470I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3281303	NM_000821.7(GGCX):c.1510C>T (p.Pro504Ser)	GGCX (P504S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099591	NM_000821.7(GGCX):c.1442T>A (p.Ile481Asn)	GGCX (I481N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 896483	NM_000821.7(GGCX):c.1299G>C (p.Gln433His)	GGCX (Q433H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3281301	NM_000821.7(GGCX):c.1052A>G (p.Lys351Arg)	GGCX (K294R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1987624	NM_000821.7(GGCX):c.994C>G (p.Pro332Ala)	GGCX (P332A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2373531	NM_000821.7(GGCX):c.885C>G (p.Ser295Arg)	GGCX (S238R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2205753	NM_000821.7(GGCX):c.833T>C (p.Ile278Thr)	GGCX (I221T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1439452	NM_000821.7(GGCX):c.832A>G (p.Ile278Val)	GGCX (I278V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3099596	NM_000821.7(GGCX):c.590T>A (p.Leu197His)	GGCX (L197H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339309	NM_000821.7(GGCX):c.517T>C (p.Phe173Leu)	GGCX (F116L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233215	NM_000821.7(GGCX):c.265G>T (p.Asp89Tyr)	GGCX (D32Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26