"Ambry Genetics"[submitter] AND "SHMT2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2370783	NM_005412.6(SHMT2):c.70A>G (p.Ile24Val)	SHMT2 (I24V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520963	NM_005412.6(SHMT2):c.73C>T (p.Arg25Trp)	SHMT2 (R4W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370517	NM_005412.6(SHMT2):c.90C>A (p.Asn30Lys)	SHMT2 (N9K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2602062	NM_005412.6(SHMT2):c.151G>C (p.Asp51His)	SHMT2 (D30H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298306	NM_005412.6(SHMT2):c.392C>T (p.Pro131Leu)	SHMT2 (P131L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412410	NM_005412.6(SHMT2):c.448G>A (p.Val150Ile)	SHMT2 (V150I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350390	NM_005412.6(SHMT2):c.706C>T (p.Arg236Cys)	SHMT2 (R226C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301705	NM_005412.6(SHMT2):c.729A>T (p.Glu243Asp)	SHMT2 (E233D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402778	NM_005412.6(SHMT2):c.977G>T (p.Gly326Val)	SHMT2 (G316V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545842	NM_005412.6(SHMT2):c.1042C>T (p.Arg348Trp)	SHMT2 (R327W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294908	NM_005412.6(SHMT2):c.1123+5G>A	SHMT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2275495	NM_005412.6(SHMT2):c.1124G>C (p.Gly375Ala)	SHMT2 (G365A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1706368	NM_005412.6(SHMT2):c.1132G>C (p.Asp378His)	SHMT2 (D357H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2371292	NM_005412.6(SHMT2):c.1324C>T (p.Arg442Trp)	SHMT2 (R432W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2211287	NM_005412.6(SHMT2):c.1360A>G (p.Ile454Val)	SHMT2 (I444V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297959	NM_005412.6(SHMT2):c.1422G>C (p.Lys474Asn)	SHMT2 (K464N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402920	NM_005412.6(SHMT2):c.1441C>T (p.Arg481Cys)	SHMT2 (R460C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265236	NM_005412.6(SHMT2):c.1462C>T (p.Arg488Trp)	SHMT2 (R478W +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities +1 more	GUncertain significance