Related gene-specific medical variations for Gene (Select 2628) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3000694	NM_001482.3(GATM):c.69+1G>A	GATM, LOC130056991	Single nucleotide variant (intron variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely pathogenic
Select item 2995397	NM_001482.3(GATM):c.69+13C>G	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2991629	NM_001482.3(GATM):c.30G>A (p.Gly10=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2908690	NM_001482.3(GATM):c.51G>A (p.Val17=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2904786	NM_001482.3(GATM):c.69+17C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2889815	NM_001482.3(GATM):c.69+15G>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2881689	NM_001482.3(GATM):c.69+17C>G	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2836755	NM_001482.3(GATM):c.14G>T (p.Arg5Leu)	GATM, LOC130056991 (R5L)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2834057	NM_001482.3(GATM):c.30G>C (p.Gly10=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2821630	NM_001482.3(GATM):c.56A>G (p.Tyr19Cys)	GATM, LOC130056991 (Y19C)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2810771	NM_001482.3(GATM):c.63A>T (p.Gly21=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2801855	NM_001482.3(GATM):c.18T>C (p.Cys6=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2799740	NM_001482.3(GATM):c.41_48dup (p.Val17fs)	GATM, LOC130056991 (V17fs)	Duplication (frameshift variant +1 more)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2797642	NM_001482.3(GATM):c.69+20C>A	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2771354	NM_001482.3(GATM):c.69+10C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2770384	NM_001482.3(GATM):c.39C>A (p.Gly13=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2715738	NM_001482.3(GATM):c.69+14C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2701743	NM_001482.3(GATM):c.32G>C (p.Ser11Thr)	GATM, LOC130056991 (S11T)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2701728	NM_001482.3(GATM):c.60C>T (p.Ile20=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
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 2488768	NM_001482.3(GATM):c.65C>T (p.Ser22Phe)	GATM, LOC130056991 (S22F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201278	NM_001482.3(GATM):c.10G>A (p.Val4Met)	GATM, LOC130056991 (V4M)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2177839	NM_001482.3(GATM):c.49G>T (p.Val17Leu)	GATM, LOC130056991 (V17L)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2157044	NM_001482.3(GATM):c.69+15G>A	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2109876	NM_001482.3(GATM):c.10G>C (p.Val4Leu)	GATM, LOC130056991 (V4L)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2080881	NM_001482.3(GATM):c.69+20C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2005916	NM_001482.3(GATM):c.4C>G (p.Leu2Val)	GATM, LOC130056991 (L2V)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1993258	NM_001482.3(GATM):c.69+5G>A	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1910213	NM_001482.3(GATM):c.69+4C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1734068	NM_001482.3(GATM):c.36C>T (p.Arg12=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 1574086	NM_001482.3(GATM):c.69+8C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 1490928	NM_001482.3(GATM):c.23G>A (p.Arg8His)	GATM, LOC130056991 (R8H)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1411695	NM_001482.3(GATM):c.68G>C (p.Arg23Pro)	GATM, LOC130056991 (R23P)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1349852	NM_001482.3(GATM):c.61G>A (p.Gly21Arg)	GATM, LOC130056991 (G21R)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1116723	NM_001482.3(GATM):c.69+8C>G	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	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 1059648	NM_001482.3(GATM):c.67C>T (p.Arg23Trp)	GATM, LOC130056991 (R23W)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 975397	NM_001482.3(GATM):c.256G>T (p.Ala86Ser)	GATM (A86S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability	GLikely benign
Select item 956022	NM_001482.3(GATM):c.30G>T (p.Gly10=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 846044	NM_001482.3(GATM):c.60C>G (p.Ile20Met)	GATM, LOC130056991 (I20M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 807236	NM_001482.3(GATM):c.64T>A (p.Ser22Thr)	GATM, LOC130056991 (S22T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 578428	NM_001482.3(GATM):c.37G>A (p.Gly13Ser)	GATM, LOC130056991 (G13S)	Single nucleotide variant (missense variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 548592	NM_001482.3(GATM):c.685A>G (p.Ile229Val)	GATM (I229V +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 536985	NM_001482.3(GATM):c.42C>G (p.Ala14=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 513688	NM_001482.3(GATM):c.-1G>C	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509969	NM_001482.3(GATM):c.-23C>G	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509681	NM_001482.3(GATM):c.-36G>C	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 508944	NM_001482.3(GATM):c.48G>A (p.Ala16=)	GATM, LOC130056991	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GLikely benign
Select item 508929	NM_001482.3(GATM):c.-44A>G	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 508539	NM_001482.3(GATM):c.-50C>T	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 469140	NM_001482.3(GATM):c.57C>T (p.Tyr19=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 431820	NM_001482.3(GATM):c.-1G>A	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi renotubular syndrome 1 +3 more	GUncertain significance
Select item 421528	NM_001482.3(GATM):c.69+7GC[4]	LOC130056991, GATM	Microsatellite (intron variant)	not specified	GLikely benign
Select item 385507	NM_001482.3(GATM):c.-13C>T	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384087	NM_001482.3(GATM):c.-16C>T	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380765	NM_001482.3(GATM):c.-11G>A	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 377914	NM_001482.3(GATM):c.-9G>T	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 316215	NM_001482.2(GATM):c.-200C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 316214	NM_001482.2(GATM):c.-171T>C	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 316213	NM_001482.3(GATM):c.-72C>T	GATM, LOC130056991	Single nucleotide variant (intron variant +1 more)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 253922	GRCh37/hg19 15q21.1(chr15:45654063-45671785)x3	GATM	Copy number gain	See cases	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 205621	NM_001482.3(GATM):c.7C>G (p.Arg3Gly)	GATM, LOC130056991 (R3G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 137454	NM_001482.3(GATM):c.69+13C>T	GATM, LOC130056991	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 137453	NM_001482.3(GATM):c.48G>T (p.Ala16=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Fanconi renotubular syndrome 1 +3 more	GBenign/Likely benign
Select item 137452	NM_001482.3(GATM):c.-30T>G	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency +1 more	GBenign

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Items: 68