ClinVar for Gene (Select 730) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262544	NM_000587.4(C7):c.595G>A (p.Glu199Lys)	C7 (E199K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262543	NM_000587.4(C7):c.2263T>C (p.Tyr755His)	C7 (Y755H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262542	NM_000587.4(C7):c.2347G>A (p.Asp783Asn)	C7 (D783N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262541	NM_000587.4(C7):c.397C>A (p.Pro133Thr)	C7 (P133T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262539	NM_000587.4(C7):c.1295C>T (p.Pro432Leu)	C7 (P432L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246449	NC_000005.9:g.(?_40964823)_(40972716_?)dup	C7	Duplication	not provided	GLikely pathogenic
Select item 3246448	NC_000005.9:g.(?_40958115)_(40959742_?)del	C7	Deletion	not provided	GPathogenic
Select item 3246447	NC_000005.9:g.(?_40949986)_(40950136_?)del	C7	Deletion	not provided	GUncertain significance
Select item 3136074	NM_000587.4(C7):c.917C>G (p.Ser306Cys)	C7 (S306C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136073	NM_000587.4(C7):c.667T>A (p.Ser223Thr)	C7 (S223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136072	NM_000587.4(C7):c.649T>A (p.Ser217Thr)	C7 (S217T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136071	NM_000587.4(C7):c.644A>T (p.His215Leu)	C7 (H215L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136070	NM_000587.4(C7):c.242C>T (p.Thr81Ile)	C7 (T81I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136069	NM_000587.4(C7):c.1748A>G (p.Gln583Arg)	C7 (Q583R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136068	NM_000587.4(C7):c.1660A>G (p.Arg554Gly)	C7 (R554G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136067	NM_000587.4(C7):c.148C>T (p.Arg50Trp)	C7 (R50W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049747	NM_000587.4(C7):c.2385G>A (p.Ser795=)	C7	Single nucleotide variant (synonymous variant)	C7-related disorder	GLikely benign
Select item 3019324	NM_000587.4(C7):c.739-1G>A	C7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3013058	NM_000587.4(C7):c.1177C>T (p.Leu393=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012044	NM_000587.4(C7):c.1749+17A>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007468	NM_000587.4(C7):c.798T>C (p.Asn266=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007273	NM_000587.4(C7):c.63-19C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006918	NM_000587.4(C7):c.291C>T (p.Ile97=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005558	NM_000587.4(C7):c.1662-9del	C7	Deletion (intron variant)	not provided	GBenign
Select item 3003946	NM_000587.4(C7):c.1386T>C (p.Asn462=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003514	NM_000587.4(C7):c.1773G>T (p.Val591=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001628	NM_000587.4(C7):c.936del (p.Glu312fs)	C7 (E312fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2994246	NM_000587.4(C7):c.1431C>T (p.Cys477=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993329	NM_000587.4(C7):c.1302C>G (p.Ala434=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991555	NM_000587.4(C7):c.2377G>C (p.Glu793Gln)	C7 (E793Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991132	NM_000587.4(C7):c.2350+13del	C7	Deletion (intron variant)	not provided	GLikely benign
Select item 2990929	NM_000587.4(C7):c.448C>T (p.Gln150Ter)	C7 (Q150*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2989984	NM_000587.4(C7):c.1661+14G>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987586	NM_000587.4(C7):c.983-7C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987486	NM_000587.4(C7):c.1094-17_1094-5del	C7	Deletion (intron variant)	not provided	GLikely benign
Select item 2984618	NM_000587.4(C7):c.1661+11C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977451	NM_000587.4(C7):c.2013T>C (p.Phe671=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976903	NM_000587.4(C7):c.568-4G>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974757	NM_000587.4(C7):c.1882+20T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974667	NM_000587.4(C7):c.888C>T (p.Ile296=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973499	NM_000587.4(C7):c.315G>C (p.Gly105=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972359	NM_000587.4(C7):c.428+17C>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971272	NM_000587.4(C7):c.1538T>G (p.Val513Gly)	C7 (V513G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954966	NM_000587.4(C7):c.1094-12T>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909517	NM_000587.4(C7):c.739-4A>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902804	NM_000587.4(C7):c.489T>C (p.Gly163=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900874	NM_000587.4(C7):c.1758T>C (p.Gly586=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900452	NM_000587.4(C7):c.1437G>T (p.Pro479=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897583	NM_000587.4(C7):c.1932C>T (p.Pro644=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895736	NM_000587.4(C7):c.787A>G (p.Ile263Val)	C7 (I263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895593	NM_000587.4(C7):c.1750-7T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887320	NM_000587.4(C7):c.1557A>G (p.Arg519=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885412	NM_000587.4(C7):c.1882+1G>A	C7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2881719	NM_000587.4(C7):c.568-20A>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880048	NM_000587.4(C7):c.288C>T (p.Cys96=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878170	NM_000587.4(C7):c.2098C>T (p.Pro700Ser)	C7 (P700S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870005	NM_000587.4(C7):c.739-2A>G	C7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2858062	NM_000587.4(C7):c.786C>T (p.Phe262=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856334	NM_000587.4(C7):c.2165+19C>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855719	NM_000587.4(C7):c.1661+12C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854869	NM_000587.4(C7):c.1906C>T (p.Leu636=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847728	NM_000587.4(C7):c.2166-20T>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841168	NM_000587.4(C7):c.1882+14G>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835721	NM_000587.4(C7):c.1490-16C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827748	NM_000587.4(C7):c.429-20C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820549	NM_000587.4(C7):c.1490-16C>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817999	NM_000587.4(C7):c.375A>C (p.Arg125Ser)	C7 (R125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816543	NM_000587.4(C7):c.280+7T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814592	NM_000587.4(C7):c.1575C>T (p.Asn525=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812258	NM_000587.4(C7):c.1296T>C (p.Pro432=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809768	NM_000587.4(C7):c.428+1G>A	C7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2805165	NM_000587.4(C7):c.1824C>T (p.Asn608=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804248	NM_000587.4(C7):c.2075-10C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801945	NM_000587.4(C7):c.2092_2095del (p.Ala698fs)	C7 (A698fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2800920	NM_000587.4(C7):c.1261-6C>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799694	NM_000587.4(C7):c.2165+12C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798887	NM_000587.4(C7):c.822G>A (p.Glu274=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796420	NM_000587.4(C7):c.363C>T (p.Asp121=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796045	NM_000587.4(C7):c.1374G>T (p.Arg458=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793543	NM_000587.4(C7):c.1489G>A (p.Gly497Arg)	C7 (G497R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792842	NM_000587.4(C7):c.138+12C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791908	NM_000587.4(C7):c.738+15T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788215	NM_000587.4(C7):c.2074+1G>A	C7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2785308	NM_000587.4(C7):c.2075-11T>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784687	NM_000587.4(C7):c.1260+19A>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783398	NM_000587.4(C7):c.1404T>C (p.Val468=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778006	NM_000587.4(C7):c.1094-13T>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776014	NM_000587.4(C7):c.9G>A (p.Val3=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770748	NM_000587.4(C7):c.881_882del (p.Arg294fs)	C7 (R294fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2764423	NM_000587.4(C7):c.1882+14G>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755585	NM_000587.4(C7):c.2511T>C (p.Pro837=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755348	NM_000587.4(C7):c.1037T>C (p.Val346Ala)	C7 (V346A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744016	NM_000587.4(C7):c.429-14C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742247	NM_000587.4(C7):c.2328C>T (p.Cys776=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722199	NM_000587.4(C7):c.1749+8A>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718490	NM_000587.4(C7):c.2075-18T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717734	NM_000587.4(C7):c.38dup (p.Gly14fs)	C7 (G14fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2716770	NM_000587.4(C7):c.739-19C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699132	NM_000587.4(C7):c.1576C>A (p.Pro526Thr)	C7 (P526T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic

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