ClinVar for MedGen (Select 1635492) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584785	NM_001482.3(GATM):c.139C>G (p.Arg47Gly)	GATM (R47G)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi renotubular syndrome 1	GUncertain significance
Select item 2582537	NM_001482.3(GATM):c.941G>A (p.Gly314Asp)	GATM (G185D +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 1	GUncertain significance
Select item 1702865	NM_001482.3(GATM):c.965G>C (p.Arg322Pro)	GATM (R193P +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 1	GLikely pathogenic
Select item 1666858	NM_001482.3(GATM):c.814-17C>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1619073	NM_001482.3(GATM):c.930C>T (p.Ile310=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1581295	NM_001482.3(GATM):c.979-19G>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1564138	NM_001482.3(GATM):c.294C>T (p.Asn98=)	GATM	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1461940	NM_001482.3(GATM):c.88G>A (p.Gly30Arg)	GATM (G30R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1435102	NM_001482.3(GATM):c.104C>A (p.Thr35Asn)	GATM (T35N)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance
Select item 1339450	NM_001482.3(GATM):c.259T>C (p.Cys87Arg)	GATM (C87R)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi renotubular syndrome 1	GLikely pathogenic
Select item 1320890	NM_001482.3(GATM):c.76C>G (p.Arg26Gly)	GATM (R26G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1120691	NM_001482.3(GATM):c.540C>T (p.Ile180=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1087719	NM_001482.3(GATM):c.684C>T (p.Pro228=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1084515	NM_001482.3(GATM):c.9G>A (p.Arg3=)	GATM, LOC130056991	Single nucleotide variant (intron variant +1 more)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1037641	NM_001482.3(GATM):c.813+6C>T	GATM	Single nucleotide variant (intron variant)	Fanconi renotubular syndrome 1 +1 more	GUncertain significance
Select item 1034931	NM_001482.3(GATM):c.875A>G (p.His292Arg)	GATM (H163R +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +1 more	GUncertain significance
Select item 1010115	NM_001482.3(GATM):c.859C>T (p.Pro287Ser)	GATM (P158S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +1 more	GUncertain significance
Select item 985416	NM_001482.3(GATM):c.911T>C (p.Ile304Thr)	GATM (I175T +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 1 +3 more	GUncertain significance
Select item 944364	NM_001482.3(GATM):c.1042+4T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +1 more	GUncertain significance
Select item 941320	NM_001482.3(GATM):c.752C>T (p.Pro251Leu)	GATM (P122L +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance
Select item 917496	NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)	GATM (P341L +1 more)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance FDA Recognized database
Select item 917495	NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)	GATM (T336I +1 more)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance FDA Recognized database
Select item 917494	NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)	GATM (T336A +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 917493	NM_001482.3(GATM):c.958C>T (p.Pro320Ser)	GATM (P320S +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 1	GPathogenic
Select item 888467	NM_001482.3(GATM):c.494G>A (p.Ser165Asn)	GATM (S165N +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +1 more	GUncertain significance
Select item 859203	NM_001482.3(GATM):c.338A>G (p.His113Arg)	GATM (H113R)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi renotubular syndrome 1 +1 more	GUncertain significance
Select item 795290	NM_001482.3(GATM):c.576G>A (p.Glu192=)	GATM	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 1 +1 more	GLikely benign
Select item 651610	NM_001482.3(GATM):c.603A>C (p.Lys201Asn)	GATM (K72N +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance
Select item 625953	NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)	GATM (D411N +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 567693	NM_001482.3(GATM):c.625A>G (p.Lys209Glu)	GATM (K209E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 548610	NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)	EHHADH (T510fs +1 more)	Insertion (frameshift variant)	Fanconi renotubular syndrome 1	GUncertain significance
Select item 536987	NM_001482.3(GATM):c.801A>C (p.Ala267=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 536984	NM_001482.3(GATM):c.710A>G (p.Lys237Arg)	GATM (K237R +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +1 more	GUncertain significance
Select item 511581	NM_001482.3(GATM):c.138C>T (p.Ser46=)	GATM	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency +2 more	GLikely benign
Select item 509542	NM_001482.3(GATM):c.1257G>A (p.Gln419=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign FDA Recognized database
Select item 498635	NM_001482.3(GATM):c.1106G>A (p.Arg369His)	GATM (R369H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 431820	NM_001482.3(GATM):c.-1G>A	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency +3 more	GUncertain significance
Select item 423739	NM_001482.3(GATM):c.160G>A (p.Asp54Asn)	GATM (D54N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 385070	NM_001482.3(GATM):c.484+19C>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +2 more	GLikely benign
Select item 380744	NM_001482.3(GATM):c.1159+19A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +2 more	GLikely benign
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 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 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 205623	NM_001482.3(GATM):c.616C>T (p.Arg206Cys)	GATM (R206C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 205611	NM_001482.3(GATM):c.279C>G (p.Ile93Met)	GATM (I93M)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance
Select item 205605	NM_001482.3(GATM):c.979-18dup	GATM	Duplication (intron variant)	Arginine:glycine amidinotransferase deficiency +2 more	GBenign/Likely benign
Select item 137453	NM_001482.3(GATM):c.48G>T (p.Ala16=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency +3 more	GBenign/Likely benign
Select item 129138	NM_001482.3(GATM):c.330A>T (p.Gln110His)	GATM (Q110H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 129137	NM_001482.3(GATM):c.1252T>C (p.Leu418=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 55919	NM_001482.3(GATM):c.505C>T (p.Arg169Ter)	GATM (R169* +1 more)	Single nucleotide variant (nonsense)	Arginine:glycine amidinotransferase deficiency	GPathogenic FDA Recognized database

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Items: 50