ClinVar for MedGen (Select 1826001) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248519	NC_000019.9:g.(?_1399127)_(1401720_?)del	GAMT	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 3023502	NM_000156.6(GAMT):c.327+15G>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 3022922	NM_000156.6(GAMT):c.459+1G>A	GAMT	Single nucleotide variant (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
Select item 3019782	NM_000156.6(GAMT):c.570+11C>G	GAMT (P194R)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 3008393	NM_000156.6(GAMT):c.552C>T (p.Asp184=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 3002553	NM_000156.6(GAMT):c.181+13C>G	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2992924	NM_000156.6(GAMT):c.327+11G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2986315	NM_000156.6(GAMT):c.392-10C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2976241	NM_000156.6(GAMT):c.391+18G>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2965280	NM_000156.6(GAMT):c.651G>T (p.Pro217=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2919353	NM_000156.6(GAMT):c.392-11T>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2918600	NM_000156.6(GAMT):c.168C>T (p.Ala56=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2917476	NM_000156.6(GAMT):c.369C>T (p.Thr123=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2913445	NM_000156.6(GAMT):c.570+17T>C	GAMT (V196A)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2908563	NM_000156.6(GAMT):c.459+11C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2906863	NM_000156.6(GAMT):c.460-12C>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2903844	NM_000156.6(GAMT):c.328-23_328-20del	GAMT	Deletion (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2897074	NM_000156.6(GAMT):c.328-5G>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2895801	NM_000156.6(GAMT):c.327+14C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2888662	NM_000156.6(GAMT):c.327+7C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2885680	NM_000156.6(GAMT):c.328-15T>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2883840	NM_000156.6(GAMT):c.328-15T>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2876649	NM_000156.6(GAMT):c.81C>T (p.Tyr27=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2872765	NM_000156.6(GAMT):c.328-7C>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2870252	NM_000156.6(GAMT):c.328-7C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2865021	NM_000156.6(GAMT):c.513C>A (p.Leu171=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2862768	NM_000156.6(GAMT):c.460-15A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2862087	NM_000156.6(GAMT):c.264C>A (p.Ile88=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2859213	NM_000156.6(GAMT):c.327+19G>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2854022	NM_000156.6(GAMT):c.571-5A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2850614	NM_000156.6(GAMT):c.327+18G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2844902	NM_000156.6(GAMT):c.571-12A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2844623	NM_000156.6(GAMT):c.144del (p.Tyr49fs)	GAMT, LOC130062945 (Y49fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2843680	NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)	GAMT (W102*)	Single nucleotide variant (nonsense)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2831012	NM_000156.6(GAMT):c.444_448del (p.Phe149fs)	GAMT (F149fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2829281	NM_000156.6(GAMT):c.392-17T>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2825539	NM_000156.6(GAMT):c.393G>T (p.Gly131=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2821427	NM_000156.6(GAMT):c.181+12C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2820259	NM_000156.6(GAMT):c.72C>A (p.Pro24=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2816495	NM_000156.6(GAMT):c.144C>T (p.Pro48=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2813493	NM_000156.6(GAMT):c.69G>C (p.Ala23=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2811113	NM_000156.6(GAMT):c.392-9T>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2811055	NM_000156.6(GAMT):c.39C>G (p.Gly13=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2796476	NM_000156.6(GAMT):c.181+8C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2789378	NM_000156.6(GAMT):c.392-14T>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2788833	NM_000156.6(GAMT):c.222A>G (p.Ala74=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2772622	NM_000156.6(GAMT):c.392-13G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2768163	NM_000156.6(GAMT):c.666C>T (p.Tyr222=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2765117	NM_000156.6(GAMT):c.21C>A (p.Thr7=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2758251	NM_000156.6(GAMT):c.292C>A (p.Arg98=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2753079	NM_000156.6(GAMT):c.648A>G (p.Pro216=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2748670	NM_000156.6(GAMT):c.182-4C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2746625	NM_000156.6(GAMT):c.392-15_392-14del	GAMT	Deletion (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2743645	NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)	GAMT	Deletion (inframe_deletion)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2740887	NM_000156.6(GAMT):c.459+19C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2740427	NM_000156.6(GAMT):c.327+19G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2740326	NM_000156.6(GAMT):c.570+11C>T	GAMT (P194L)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2729949	NM_000156.6(GAMT):c.327+15G>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2727126	NM_000156.6(GAMT):c.429C>T (p.Thr143=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2723860	NM_000156.6(GAMT):c.369C>G (p.Thr123=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2720231	NM_000156.6(GAMT):c.391+20A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2719634	NM_000156.6(GAMT):c.327+17A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2717440	NM_000156.6(GAMT):c.328-13del	GAMT	Deletion (intron variant)	Cerebral creatine deficiency syndrome	GBenign
Select item 2715989	NM_000156.6(GAMT):c.327+2T>G	GAMT	Single nucleotide variant (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
Select item 2714266	NM_000156.6(GAMT):c.678A>G (p.Pro226=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2713276	NM_000156.6(GAMT):c.264C>T (p.Ile88=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2712458	NM_000156.6(GAMT):c.182-12G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2708526	NM_000156.6(GAMT):c.237G>A (p.Gln79=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2704489	NM_000156.6(GAMT):c.519C>T (p.Ser173=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2696813	NM_000156.6(GAMT):c.392-13G>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2683728	NM_000156.6(GAMT):c.233T>A (p.Val78Glu)	GAMT (V78E)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2675839	NM_000156.6(GAMT):c.50del (p.Ser17fs)	GAMT, LOC130062945 (S17fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 2446457	NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)	GAMT (A74P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	CBARP, CIRBP +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2421360	NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)	GAMT (W174C)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2419155	NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)	GAMT, LOC130062945 (W45*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2415242	NM_000156.6(GAMT):c.183G>A (p.Gly61=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2413361	NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)	GAMT, LOC130062945 (A52G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2193271	NM_000156.6(GAMT):c.328-17C>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2192764	NM_000156.6(GAMT):c.10C>T (p.Pro4Ser)	GAMT, LOC130062945 (P4S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2189402	NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)	GAMT, LOC130062945 (L53R)	Inversion (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2183781	NM_000156.6(GAMT):c.460-3C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2164666	NM_000156.6(GAMT):c.66G>T (p.Ala22=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2159399	NM_000156.6(GAMT):c.221C>T (p.Ala74Val)	GAMT (A74V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2153880	NM_000156.6(GAMT):c.199G>A (p.Val67Met)	GAMT (V67M)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2145645	NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)	GAMT (R100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2145165	NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)	GAMT (R208L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2143904	NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)	GAMT, LOC130062945 (G38S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2140914	NM_000156.6(GAMT):c.459+12dup	GAMT	Duplication (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2139924	NM_000156.6(GAMT):c.563T>C (p.Met188Thr)	GAMT (M188T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2139494	NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)	GAMT (R204G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2138184	NM_000156.6(GAMT):c.152A>C (p.His51Pro)	GAMT, LOC130062945 (H51P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2137773	NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)	GAMT (K235N)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2136398	NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)	GAMT, LOC130062945 (P40R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2123720	NM_000156.6(GAMT):c.82dup (p.Asp28fs)	GAMT, LOC130062945 (D28fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2120778	NM_000156.6(GAMT):c.606C>T (p.Phe202=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2111206	NM_000156.6(GAMT):c.392-5T>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2107090	NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)	GAMT (E199K)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2098482	NM_000156.6(GAMT):c.18G>A (p.Ala6=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2097428	NM_000156.6(GAMT):c.37G>T (p.Gly13Cys)	GAMT, LOC130062945 (G13C)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance

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