ClinVar (all) for Orgtrack (Select 505777) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225921	NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)	GATM (R415Q +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 225920	NM_001482.3(GATM):c.1037C>T (p.Pro346Leu)	GATM (P346L +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225919	NM_001482.3(GATM):c.985C>G (p.Leu329Val)	GATM (L329V +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225918	NM_001482.3(GATM):c.845G>A (p.Arg282His)	GATM (R282H +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225917	NM_001482.3(GATM):c.655G>A (p.Ala219Thr)	GATM (A219T +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 225916	NM_001482.3(GATM):c.622G>A (p.Ala208Thr)	GATM (A208T +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225915	NM_001482.3(GATM):c.565C>T (p.Arg189Cys)	GATM (R189C +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225914	NM_001482.3(GATM):c.541G>A (p.Glu181Lys)	GATM (E181K +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225913	NM_001482.3(GATM):c.314C>T (p.Pro105Leu)	GATM (P105L)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 225912	NM_001482.3(GATM):c.306G>C (p.Lys102Asn)	GATM (K102N)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 225911	NM_001482.3(GATM):c.68G>A (p.Arg23Gln)	GATM, LOC130056991 (R23Q)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 205624	NM_001482.3(GATM):c.701A>G (p.Asp234Gly)	GATM (D234G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 205616	NM_001482.3(GATM):c.692C>G (p.Ser231Cys)	GATM (S231C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 205613	NM_001482.3(GATM):c.407C>T (p.Thr136Met)	GATM (T136M +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 205610	NM_001482.3(GATM):c.277A>G (p.Ile93Val)	GATM (I93V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity