"Ambry Genetics"[submitter] AND "GFM1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2264494	NM_024996.7(GFM1):c.268G>C (p.Asp90His)	GFM1 (D90H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2262920	NM_024996.7(GFM1):c.319A>G (p.Thr107Ala)	GFM1 (T107A +1 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1199313	NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)	GFM1 (N115S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2623706	NM_024996.7(GFM1):c.379T>C (p.Phe127Leu)	GFM1 (F52L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2205180	NM_024996.7(GFM1):c.551C>T (p.Ala184Val)	GFM1 (A109V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2074784	NM_024996.7(GFM1):c.595G>T (p.Ala199Ser)	GFM1 (A10S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3099450	NM_024996.7(GFM1):c.614T>C (p.Met205Thr)	GFM1 (M205T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2326205	NM_024996.7(GFM1):c.631T>C (p.Phe211Leu)	GFM1 (F211L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2283903	NM_024996.7(GFM1):c.980C>G (p.Ala327Gly)	GFM1 (A138G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479304	NM_024996.7(GFM1):c.982A>G (p.Ile328Val)	GFM1 (I253V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237122	NM_024996.7(GFM1):c.1046A>G (p.Asn349Ser)	GFM1 (N349S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 343930	NM_024996.7(GFM1):c.1083+3A>G	GFM1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2076912	NM_024996.7(GFM1):c.1091G>A (p.Arg364Gln)	GFM1 (R136Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 214486	NM_024996.7(GFM1):c.1114C>T (p.Arg372Cys)	GFM1 (R372C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2590996	NM_024996.7(GFM1):c.1132C>G (p.Leu378Val)	GFM1 (L150V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408423	NM_024996.7(GFM1):c.1201A>G (p.Met401Val)	GFM1 (M173V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099448	NM_024996.7(GFM1):c.1207G>A (p.Ala403Thr)	GFM1 (A403T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2446162	NM_024996.7(GFM1):c.1213A>G (p.Met405Val)	GFM1 (M177V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1195558	NM_024996.7(GFM1):c.1256C>T (p.Ala419Val)	GFM1 (A191V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214479	NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile)	GFM1 (T486I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3099449	NM_024996.7(GFM1):c.1535A>T (p.Tyr512Phe)	GFM1 (Y437F +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1515463	NM_024996.7(GFM1):c.1544C>T (p.Pro515Leu)	GFM1 (P362L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2304393	NM_020169.4(LXN):c.560T>C (p.Ile187Thr)	GFM1, LXN (I187T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237417	NM_020169.4(LXN):c.391C>G (p.Pro131Ala)	GFM1, LXN (P131A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463612	NM_020169.4(LXN):c.80C>T (p.Thr27Ile)	GFM1, LXN (T27I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324480	NM_020169.4(LXN):c.52C>G (p.Gln18Glu)	GFM1, LXN (Q18E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555957	NM_024996.7(GFM1):c.1684G>C (p.Glu562Gln)	GFM1 (E535Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 901932	NM_024996.7(GFM1):c.1948A>G (p.Met650Val)	GFM1 (M611V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2257844	NM_024996.7(GFM1):c.2215A>G (p.Thr739Ala)	GFM1 (T511A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2147905	NM_024996.7(GFM1):c.2215A>C (p.Thr739Pro)	GFM1 (T550P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 30