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

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Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098958	NM_000583.4(GC):c.1384T>G (p.Cys462Gly)	GC (C481G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098957	NM_000583.4(GC):c.1367A>C (p.Asn456Thr)	GC (N456T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276728	NM_000583.4(GC):c.1342T>C (p.Phe448Leu)	GC (F448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246284	NM_000583.4(GC):c.1259A>T (p.Lys420Ile)	GC (K420I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280969	NM_000583.4(GC):c.1105C>G (p.Leu369Val)	GC (L388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248060	NM_000583.4(GC):c.1019C>T (p.Thr340Ile)	GC (T340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280971	NM_000583.4(GC):c.981G>C (p.Glu327Asp)	GC (E346D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390158	NM_000583.4(GC):c.842A>G (p.His281Arg)	GC (H281R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098962	NM_000583.4(GC):c.811G>C (p.Glu271Gln)	GC (E271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098961	NM_000583.4(GC):c.761T>C (p.Leu254Pro)	GC (L254P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303408	NM_000583.4(GC):c.653G>A (p.Arg218Lys)	GC (R218K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612883	NM_000583.4(GC):c.627A>T (p.Leu209Phe)	GC (L228F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361913	NM_000583.4(GC):c.553A>G (p.Met185Val)	GC (M204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463270	NM_000583.4(GC):c.440C>T (p.Ala147Val)	GC (A147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381200	NM_000583.4(GC):c.428A>G (p.Glu143Gly)	GC (E143G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098960	NM_000583.4(GC):c.398T>A (p.Phe133Tyr)	GC (F152Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280970	NM_000583.4(GC):c.395A>C (p.Glu132Ala)	GC (E132A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513262	NM_000583.4(GC):c.245A>T (p.Asp82Val)	GC (D101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467790	NM_000583.4(GC):c.214G>A (p.Glu72Lys)	GC (E91K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236226	NM_000583.4(GC):c.167C>G (p.Thr56Arg)	GC (T75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606660	NM_000583.4(GC):c.100C>A (p.His34Asn)	GC (H53N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098959	NM_000583.4(GC):c.22C>G (p.Leu8Val)	GC (L27V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268412	NM_000583.4(GC):c.10G>A (p.Val4Ile)	GC (V4I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

ClinVar

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Items: 23