ClinVar for Gene (Select 4337) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239734	NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter)	MOCS1 (W169* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239733	NM_001358530.2(MOCS1):c.1004dup (p.Val336fs)	MOCS1 (V249fs +1 more)	Duplication (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239732	NM_001358530.2(MOCS1):c.427C>T (p.Gln143Ter)	MOCS1 (Q143* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239731	NM_001358530.2(MOCS1):c.124-32del	MOCS1 (G31fs)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3239730	NM_001358530.2(MOCS1):c.252_256delinsG (p.Cys84fs)	MOCS1 (C84fs)	Indel (frameshift variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 3235883	NM_001358530.2(MOCS1):c.1338del (p.Arg447fs)	MOCS1 (R360fs +2 more)	Deletion (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 3189961	NM_001358530.2(MOCS1):c.124-39A>G	MOCS1 (S29G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189907	NM_001358530.2(MOCS1):c.124-42G>A	MOCS1 (G28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3064447	NM_001358530.2(MOCS1):c.1805T>C (p.Leu602Pro)	MOCS1 (L515P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 3063887	NM_001358530.2(MOCS1):c.124-124_124-123del	MOCS1 (M1fs)	Deletion (intron variant +2 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely pathogenic
Select item 3060783	NM_001358530.2(MOCS1):c.124-31C>A	MOCS1	Single nucleotide variant (synonymous variant +1 more)	MOCS1-related disorder	GLikely benign
Select item 3054924	NM_001358530.2(MOCS1):c.55C>T (p.Arg19Trp)	MOCS1 (R19W)	Single nucleotide variant (missense variant +2 more)	MOCS1-related disorder	GUncertain significance
Select item 3022829	NM_001358530.2(MOCS1):c.288C>G (p.Thr96=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 3019942	NM_001358530.2(MOCS1):c.776del (p.Lys259fs)	MOCS1 (K259fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 3008119	NM_001358530.2(MOCS1):c.333C>T (p.Ala111=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 3004314	NM_001358530.2(MOCS1):c.414T>A (p.Ile138=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2970661	NM_001358530.2(MOCS1):c.981+12C>G	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2968305	NM_001358530.2(MOCS1):c.758-16C>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2964517	NM_001358530.2(MOCS1):c.418+19A>G	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2961439	NM_001358530.2(MOCS1):c.1103-37_1103-19dup	MOCS1	Duplication (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2959951	NM_001358530.2(MOCS1):c.108G>C (p.Ala36=)	MOCS1	Single nucleotide variant (synonymous variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2958347	NM_001358530.2(MOCS1):c.981+19_981+27del	MOCS1	Deletion (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2918637	NM_001358530.2(MOCS1):c.1050G>A (p.Glu350=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2918631	NM_001358530.2(MOCS1):c.720C>A (p.Pro240=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	MOCS1-related disorder +1 more	GLikely benign
Select item 2917111	NM_001358530.2(MOCS1):c.419-13G>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2899331	NM_001358530.2(MOCS1):c.645+20G>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2895060	NM_001358530.2(MOCS1):c.342T>C (p.Phe114=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2880758	NC_000006.12:g.39907116CT[1]	MOCS1	Microsatellite	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2876843	NM_001358530.2(MOCS1):c.1150+19C>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2876167	NM_001358530.2(MOCS1):c.22C>T (p.Arg8Trp)	MOCS1 (R8W)	Single nucleotide variant (missense variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2875780	NM_001358530.2(MOCS1):c.1854G>A (p.Glu618=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2875082	NM_001358530.2(MOCS1):c.1308C>T (p.Ala436=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2872822	NM_001358530.2(MOCS1):c.304C>T (p.Leu102=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2872677	NM_001358530.2(MOCS1):c.1650G>A (p.Leu550=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2872535	NM_001358530.2(MOCS1):c.1275del (p.Gly426fs)	MOCS1 (G339fs +2 more)	Deletion (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2871060	NM_001358530.2(MOCS1):c.1665C>T (p.His555=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2866583	NM_001358530.2(MOCS1):c.577_583+6del	MOCS1	Deletion (splice donor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2866152	NM_001358530.2(MOCS1):c.519del (p.Ser173fs)	MOCS1 (S173fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2864938	NM_001358530.2(MOCS1):c.1276G>T (p.Gly426Ter)	MOCS1 (G410* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2864464	NM_001358530.2(MOCS1):c.982-1G>A	MOCS1	Single nucleotide variant (splice acceptor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2863488	NM_001358530.2(MOCS1):c.1054C>T (p.Leu352=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2852960	NM_001358530.2(MOCS1):c.1170del (p.Asn391fs)	MOCS1 (N375fs +2 more)	Deletion (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2852183	NM_001358530.2(MOCS1):c.142C>T (p.Gln48Ter)	MOCS1 (Q48*)	Single nucleotide variant (nonsense +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2851529	NM_001358530.2(MOCS1):c.750del (p.Phe251fs)	MOCS1 (F251fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2846179	NM_001358530.2(MOCS1):c.1182A>G (p.Pro394=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2844954	NM_001358530.2(MOCS1):c.277del (p.Val93fs)	MOCS1 (V93fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2840213	NM_001358530.2(MOCS1):c.1103-4C>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2838918	NM_001358530.2(MOCS1):c.106del (p.Ala36fs)	MOCS1 (A36fs)	Deletion (frameshift variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2838140	NM_001358530.2(MOCS1):c.250+14C>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2838136	NM_001358530.2(MOCS1):c.1206G>A (p.Trp402Ter)	MOCS1 (W315* +2 more)	Single nucleotide variant (nonsense +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2837772	NM_001358530.2(MOCS1):c.1340_1341del (p.Arg447fs)	MOCS1 (R431fs +2 more)	Microsatellite (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2833976	NM_001358530.2(MOCS1):c.421C>T (p.Gln141Ter)	MOCS1 (Q141* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2827183	NM_001358530.2(MOCS1):c.993del (p.Phe331fs)	MOCS1 (F244fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2806986	NM_001358530.2(MOCS1):c.1151-4G>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2806147	NM_001358530.2(MOCS1):c.1785C>G (p.Thr595=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2802629	NM_001358530.2(MOCS1):c.802C>T (p.Leu268=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2798857	NM_001358530.2(MOCS1):c.1501_1504del (p.Asp501fs)	MOCS1 (D485fs +2 more)	Deletion (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2791463	NM_001358530.2(MOCS1):c.757+17G>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2791335	NM_001358530.2(MOCS1):c.544del (p.Leu182fs)	MOCS1 (L95fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2790364	NM_001358530.2(MOCS1):c.1414C>T (p.Pro472Ser)	MOCS1 (P456S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2772353	NM_001358530.2(MOCS1):c.1150+10C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2772276	NM_001358530.2(MOCS1):c.975C>T (p.Asn325=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2760726	NM_001358530.2(MOCS1):c.609C>T (p.Ile203=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2760273	NM_001358530.2(MOCS1):c.1338_1341dup (p.His448fs)	MOCS1 (H432fs +2 more)	Microsatellite (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2759095	NM_001358530.2(MOCS1):c.21C>G (p.Ser7=)	MOCS1	Single nucleotide variant (synonymous variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2745858	NM_001358530.2(MOCS1):c.8C>T (p.Ala3Val)	MOCS1 (A3V)	Single nucleotide variant (missense variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2741784	NM_001358530.2(MOCS1):c.909C>T (p.Phe303=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2739981	NM_001358530.2(MOCS1):c.124-6T>G	MOCS1 (S40A)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2739380	NM_001358530.2(MOCS1):c.1451_1452del (p.His484fs)	MOCS1 (H484fs +2 more)	Deletion (frameshift variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2739213	NM_001358530.2(MOCS1):c.870+1G>T	MOCS1	Single nucleotide variant (splice donor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2732457	NM_001358530.2(MOCS1):c.1299T>C (p.Pro433=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2726644	NM_001358530.2(MOCS1):c.669C>T (p.Gly223=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2717618	NM_001358530.2(MOCS1):c.645+11G>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2715123	NM_001358530.2(MOCS1):c.1290C>G (p.Pro430=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2714361	NM_001358530.2(MOCS1):c.387G>A (p.Pro129=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2714107	NM_001358530.2(MOCS1):c.1102+14G>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2710639	NM_001358530.2(MOCS1):c.63C>T (p.Cys21=)	MOCS1	Single nucleotide variant (synonymous variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2710320	NM_001358530.2(MOCS1):c.1103-17T>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2709895	NM_001358530.2(MOCS1):c.455del (p.Gly152fs)	MOCS1 (G65fs +1 more)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2708062	NM_001358530.2(MOCS1):c.609C>A (p.Ile203=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2705520	NM_001358530.2(MOCS1):c.925G>T (p.Glu309Ter)	MOCS1 (E222* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic
Select item 2704152	NM_001358530.2(MOCS1):c.982-4G>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2701134	NM_001358530.2(MOCS1):c.418+20T>G	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2701047	NM_001358530.2(MOCS1):c.255G>A (p.Gln85=)	MOCS1	Single nucleotide variant (synonymous variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2698381	NM_001358530.2(MOCS1):c.1881T>G (p.Gly627=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2697271	NM_001358530.2(MOCS1):c.1848G>T (p.Val616=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2695802	NM_001358530.2(MOCS1):c.250+7C>T	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2693036	NM_001358530.2(MOCS1):c.414T>C (p.Ile138=)	MOCS1	Single nucleotide variant (synonymous variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2684445	GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3	DAAM2, GLP1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 2682608	NM_001358530.2(MOCS1):c.1858_1859dup (p.Lys621fs)	MOCS1 (K534fs +2 more)	Duplication (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2676650	NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys)	MOCS1 (R230C +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676649	NM_001358530.2(MOCS1):c.278dup (p.Leu95fs)	MOCS1 (L8fs +1 more)	Duplication (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676648	NM_001358530.2(MOCS1):c.124-26_124-25delinsA	MOCS1 (C33fs)	Indel (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676647	NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter)	MOCS1 (E114* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676646	NM_001358530.2(MOCS1):c.871-1G>A	MOCS1	Single nucleotide variant (splice acceptor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676645	NM_001358530.2(MOCS1):c.255_264delinsTCCTT (p.Gln85fs)	MOCS1 (M1fs +1 more)	Indel (frameshift variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676644	NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)	MOCS1 (R135* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GPathogenic/Likely pathogenic
Select item 2676643	NM_001358530.2(MOCS1):c.124-43del	MOCS1 (G28fs)	Deletion (frameshift variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic
Select item 2676642	NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)	MOCS1 (R256* +1 more)	Single nucleotide variant (nonsense +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely pathogenic

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