GGN[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 785914	NM_152657.4(GGN):c.1939C>G (p.Gln647Glu)	GGN (Q647E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769973	NM_152657.4(GGN):c.1939C>T (p.Gln647Ter)	GGN (Q647*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3099606	NM_152657.4(GGN):c.1846A>G (p.Ser616Gly)	GGN (S616G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524215	NM_152657.4(GGN):c.1826G>A (p.Arg609His)	GGN (R609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481565	NM_152657.4(GGN):c.1813C>T (p.Arg605Cys)	GGN (R605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281309	NM_152657.4(GGN):c.1705G>T (p.Ala569Ser)	GGN (A569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281310	NM_152657.4(GGN):c.1643C>T (p.Pro548Leu)	GGN (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099605	NM_152657.4(GGN):c.1640G>A (p.Gly547Asp)	GGN (G547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785622	NM_152657.4(GGN):c.1639G>A (p.Gly547Ser)	GGN (G547S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2207044	NM_152657.4(GGN):c.1612A>G (p.Thr538Ala)	GGN (T538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475030	NM_152657.4(GGN):c.1570C>A (p.Arg524Ser)	GGN (R524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592646	NM_152657.4(GGN):c.1522T>C (p.Ser508Pro)	GGN (S508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768988	NM_152657.4(GGN):c.1496_1497insCCCGGCCCCGGCCCCATCCCCGGC (p.Ala495_Pro502dup)	GGN	Insertion (inframe_insertion)	not provided	GBenign
Select item 708829	NM_152657.4(GGN):c.1471G>A (p.Asp491Asn)	GGN (D491N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2395029	NM_152657.4(GGN):c.1442C>A (p.Ala481Asp)	GGN (A481D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241819	NM_152657.4(GGN):c.1415A>G (p.Lys472Arg)	GGN (K472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099603	NM_152657.4(GGN):c.1399C>G (p.Pro467Ala)	GGN (P467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545037	NM_152657.4(GGN):c.1352C>T (p.Pro451Leu)	GGN (P451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026019	NM_152657.4(GGN):c.1334_1345del (p.441PPPT[1])	GGN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3099602	NM_152657.4(GGN):c.1287G>A (p.Pro429=)	GGN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1676198	NM_152657.4(GGN):c.1271del (p.Gly424fs)	GGN (G424fs)	Deletion (frameshift variant)	Spermatogenic failure 69	GPathogenic
Select item 773902	NM_152657.4(GGN):c.1214G>A (p.Arg405Lys)	GGN (R405K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769453	NM_152657.4(GGN):c.1177C>T (p.Pro393Ser)	GGN (P393S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 773903	NM_152657.4(GGN):c.1144G>A (p.Ala382Thr)	GGN (A382T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2510303	NM_152657.4(GGN):c.1133G>A (p.Arg378Gln)	GGN (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455049	NM_152657.4(GGN):c.1130G>A (p.Arg377Gln)	GGN (R377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270518	NM_152657.4(GGN):c.1114G>A (p.Gly372Ser)	GGN (G372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774957	NM_152657.4(GGN):c.1104G>A (p.Gly368=)	GGN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2392765	NM_152657.4(GGN):c.1085G>A (p.Arg362His)	GGN (R362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510894	NM_152657.4(GGN):c.1069C>A (p.Pro357Thr)	GGN (P357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281308	NM_152657.4(GGN):c.1030T>C (p.Phe344Leu)	GGN (F344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223964	NM_152657.4(GGN):c.976C>A (p.Pro326Thr)	GGN (P326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710766	NM_152657.4(GGN):c.958G>A (p.Glu320Lys)	GGN (E320K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347949	NM_152657.4(GGN):c.932A>G (p.Glu311Gly)	GGN (E311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349258	NM_152657.4(GGN):c.848T>A (p.Ile283Asn)	GGN (I283N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3099610	NM_152657.4(GGN):c.829T>C (p.Phe277Leu)	GGN (F277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313545	NM_152657.4(GGN):c.815G>A (p.Gly272Glu)	GGN (G272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306327	NM_152657.4(GGN):c.662C>T (p.Pro221Leu)	GGN (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775410	NM_152657.4(GGN):c.593C>T (p.Pro198Leu)	GGN (P198L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2597330	NM_152657.4(GGN):c.590C>T (p.Ser197Leu)	GGN (S197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593846	NM_152657.4(GGN):c.561A>C (p.Arg187Ser)	GGN (R187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524368	NM_152657.4(GGN):c.535T>C (p.Ser179Pro)	GGN (S179P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381320	NM_152657.4(GGN):c.514A>G (p.Lys172Glu)	GGN (K172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649789	NM_152657.4(GGN):c.492T>C (p.Phe164=)	GGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352866	NM_152657.4(GGN):c.488A>C (p.Gln163Pro)	GGN (Q163P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 790205	NM_152657.4(GGN):c.482C>A (p.Pro161Gln)	GGN (P161Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782625	NM_152657.4(GGN):c.429GCC[6] (p.Pro148dup)	GGN	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 3099609	NM_152657.4(GGN):c.440C>T (p.Pro147Leu)	GGN (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676199	NM_152657.4(GGN):c.416_437del (p.Leu139fs)	GGN (L139fs)	Deletion (frameshift variant)	Spermatogenic failure 69	GPathogenic
Select item 2369882	NM_152657.4(GGN):c.418C>T (p.Arg140Cys)	GGN (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485925	NM_152657.4(GGN):c.379G>C (p.Glu127Gln)	GGN (E127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026402	NM_152657.4(GGN):c.362G>A (p.Arg121Gln)	GGN (R121Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485637	NM_152657.4(GGN):c.326C>T (p.Ser109Phe)	GGN (S109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281305	NM_152657.4(GGN):c.254C>T (p.Pro85Leu)	GGN (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281307	NM_152657.4(GGN):c.253C>A (p.Pro85Thr)	GGN (P85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281306	NM_152657.4(GGN):c.252G>A (p.Met84Ile)	GGN (M84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099607	NM_152657.4(GGN):c.212C>T (p.Ser71Leu)	GGN (S71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289313	NM_152657.4(GGN):c.188C>T (p.Pro63Leu)	GGN (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649790	NM_152657.4(GGN):c.147C>T (p.Val49=)	GGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252743	NM_152657.4(GGN):c.140T>G (p.Leu47Arg)	GGN (L47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720415	NM_152657.4(GGN):c.70C>T (p.Pro24Ser)	GGN (P24S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2407196	NM_152657.4(GGN):c.67G>A (p.Ala23Thr)	GGN (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524308	NM_152657.4(GGN):c.64C>G (p.Arg22Gly)	GGN (R22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 73