ClinVar for Gene (Select 51053) - ClinVar

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Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246225	NC_000006.11:g.(?_24777475)_(24786027_?)dup	GMNN	Duplication	not provided	GUncertain significance
Select item 3100510	NM_015895.5(GMNN):c.236G>C (p.Gly79Ala)	GMNN (G79A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049761	NM_015895.5(GMNN):c.-9A>G	GMNN	Single nucleotide variant (5 prime UTR variant)	GMNN-related disorder	GBenign
Select item 3025599	NM_015895.5(GMNN):c.463A>G (p.Ile155Val)	GMNN (I155V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3016879	NM_015895.5(GMNN):c.275-11T>C	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007259	NM_015895.5(GMNN):c.524A>G (p.Asp175Gly)	GMNN (D175G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994466	NM_015895.5(GMNN):c.232C>A (p.Leu78Ile)	GMNN (L78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991889	NM_015895.5(GMNN):c.330G>A (p.Leu110=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967827	NM_015895.5(GMNN):c.539C>G (p.Thr180Ser)	GMNN (T180S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959132	NM_015895.5(GMNN):c.275-18T>A	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887446	NM_015895.5(GMNN):c.234T>C (p.Leu78=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856393	NM_015895.5(GMNN):c.353A>G (p.Glu118Gly)	GMNN (E118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852037	NM_015895.5(GMNN):c.292T>C (p.Tyr98His)	GMNN (Y98H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836087	NM_015895.5(GMNN):c.186T>G (p.Thr62=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820523	NM_015895.5(GMNN):c.265A>T (p.Met89Leu)	GMNN (M89L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816893	NM_015895.5(GMNN):c.376C>T (p.Gln126Ter)	GMNN (Q126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2723807	NM_015895.5(GMNN):c.184A>G (p.Thr62Ala)	GMNN (T62A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716036	NM_015895.5(GMNN):c.326C>T (p.Ala109Val)	GMNN (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691317	NM_015895.5(GMNN):c.626T>C (p.Ile209Thr)	GMNN (I209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2656288	NM_015895.5(GMNN):c.495T>G (p.Asn165Lys)	GMNN (N165K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611100	NM_015895.5(GMNN):c.490G>A (p.Asp164Asn)	GMNN (D164N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375778	NM_015895.5(GMNN):c.406A>G (p.Lys136Glu)	GMNN (K136E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2261159	NM_015895.5(GMNN):c.217A>G (p.Ser73Gly)	GMNN (S73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165514	NM_015895.5(GMNN):c.411G>A (p.Glu137=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159969	NM_015895.5(GMNN):c.398G>A (p.Arg133His)	GMNN (R133H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144877	NM_015895.5(GMNN):c.266T>C (p.Met89Thr)	GMNN (M89T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2126080	NM_015895.5(GMNN):c.274+15A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111416	NM_015895.5(GMNN):c.175_177del (p.Thr59del)	GMNN (T59del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2111135	NM_015895.5(GMNN):c.358-15A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096664	NM_015895.5(GMNN):c.129+12A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064645	NM_015895.5(GMNN):c.73A>G (p.Thr25Ala)	GMNN (T25A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064210	NM_015895.5(GMNN):c.43A>C (p.Asn15His)	GMNN (N15H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2058581	NM_015895.5(GMNN):c.121del (p.Glu41fs)	GMNN (E41fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2053807	NM_015895.5(GMNN):c.426A>G (p.Ala142=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994364	NM_015895.5(GMNN):c.267G>T (p.Met89Ile)	GMNN (M89I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982523	NM_015895.5(GMNN):c.287C>G (p.Ser96Cys)	GMNN (S96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976905	NM_015895.5(GMNN):c.274+12T>A	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975139	NM_015895.5(GMNN):c.91C>G (p.Pro31Ala)	GMNN (P31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948198	NM_015895.5(GMNN):c.129+19A>C	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945893	NM_015895.5(GMNN):c.469-11T>G	GMNN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941926	NM_015895.5(GMNN):c.622T>C (p.Cys208Arg)	GMNN (C208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933804	NM_015895.5(GMNN):c.205G>A (p.Val69Ile)	GMNN (V69I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932766	NM_015895.5(GMNN):c.327G>C (p.Ala109=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922181	NM_015895.5(GMNN):c.51+11G>C	GMNN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898797	NM_015895.5(GMNN):c.62T>G (p.Val21Gly)	GMNN (V21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716628	NM_015895.5(GMNN):c.245C>G (p.Thr82Ser)	GMNN (T82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671194	NM_015895.5(GMNN):c.381G>A (p.Lys127=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627191	NM_015895.5(GMNN):c.358-11A>T	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609175	NM_015895.5(GMNN):c.579G>A (p.Thr193=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596747	NM_015895.5(GMNN):c.323A>G (p.Lys108Arg)	GMNN (K108R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1566101	NM_015895.5(GMNN):c.172T>C (p.Leu58=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562640	NM_015895.5(GMNN):c.274+12T>C	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1537542	NM_015895.5(GMNN):c.282A>G (p.Pro94=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529638	NM_015895.5(GMNN):c.51+19_51+20del	GMNN	Deletion (intron variant)	not provided	GLikely benign
Select item 1519070	NM_015895.5(GMNN):c.492T>A (p.Asp164Glu)	GMNN (D164E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431621	NM_015895.5(GMNN):c.247C>A (p.Gln83Lys)	GMNN (Q83K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421697	NM_015895.5(GMNN):c.316C>T (p.Arg106Trp)	GMNN (R106W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397504	NM_015895.5(GMNN):c.233T>C (p.Leu78Pro)	GMNN (L78P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371636	NM_015895.5(GMNN):c.158A>G (p.His53Arg)	GMNN (H53R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333989	NM_015895.5(GMNN):c.276A>G (p.Glu92=)	GMNN	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 6	GUncertain significance
Select item 1290055	NM_015895.5(GMNN):c.468+109G>A	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289253	NM_015895.5(GMNN):c.52-166C>T	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288719	NM_015895.5(GMNN):c.469-284C>G	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278512	NM_015895.5(GMNN):c.469-178A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272077	NM_015895.5(GMNN):c.130-237AAT[3]	GMNN	Microsatellite (intron variant)	not provided	GBenign
Select item 1269177	NM_015895.5(GMNN):c.275-263C>T	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266816	NM_015895.5(GMNN):c.129+57A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253237	NM_015895.5(GMNN):c.468+257T>C	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245882	NM_015895.5(GMNN):c.*244C>T	GMNN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242724	NM_015895.5(GMNN):c.357+39C>T	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226415	NM_015895.5(GMNN):c.129+271G>C	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168949	NM_015895.5(GMNN):c.105A>C (p.Gly35=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1165185	NM_015895.5(GMNN):c.160C>T (p.Arg54Trp)	GMNN (R54W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1165184	NM_015895.5(GMNN):c.144G>C (p.Leu48Phe)	GMNN (L48F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1164494	NM_015895.5(GMNN):c.53A>C (p.Asn18Thr)	GMNN (N18T)	Single nucleotide variant (missense variant)	GMNN-related disorder +1 more	GBenign
Select item 1062399	NM_015895.5(GMNN):c.136G>A (p.Ala46Thr)	GMNN (A46T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1006625	NM_015895.5(GMNN):c.64C>T (p.Pro22Ser)	GMNN (P22S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1003567	NM_015895.5(GMNN):c.469-3A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 814803	GRCh37/hg19 6p22.3(chr6:24497678-25168510)x3	TDP2, ACOT13 +5 more	Copy number gain	not provided	GUncertain significance
Select item 809886	NM_015895.5(GMNN):c.397C>T (p.Arg133Cys)	GMNN (R133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 790027	NM_015895.5(GMNN):c.178T>C (p.Ser60Pro)	GMNN (S60P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 751455	NM_015895.5(GMNN):c.608C>T (p.Thr203Met)	GMNN (T203M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 744907	NM_015895.5(GMNN):c.366A>G (p.Lys122=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743504	NM_015895.5(GMNN):c.12T>C (p.Ser4=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730453	NM_015895.5(GMNN):c.357+7A>G	GMNN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726182	NM_015895.5(GMNN):c.327G>A (p.Ala109=)	GMNN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 204001	NM_015895.5(GMNN):c.50A>G (p.Lys17Arg)	GMNN (K17R)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome	GLikely pathogenic
Select item 204000	NM_015895.5(GMNN):c.35_38del (p.Ile12fs)	GMNN (I12fs)	Deletion (frameshift variant)	Meier-Gorlin syndrome	GPathogenic
Select item 203999	NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)	GMNN (K6*)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 151590	GRCh38/hg38 6p22.3(chr6:24686052-24833713)x3	ACOT13, ARMH2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 97