"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SUMF1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1576660	NM_182760.4(SUMF1):c.1124G>A (p.Ter375=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 96559	NM_182760.4(SUMF1):c.1116T>C (p.Thr372=)	SUMF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3013987	NM_182760.4(SUMF1):c.1110G>T (p.Leu370=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1084364	NM_182760.4(SUMF1):c.1107C>T (p.Arg369=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2141981	NM_182760.4(SUMF1):c.1106G>A (p.Arg369His)	SUMF1 (R369H +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2145466	NM_182760.4(SUMF1):c.1105C>T (p.Arg369Cys)	SUMF1 (R349C +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1943740	NM_182760.4(SUMF1):c.1102G>A (p.Asp368Asn)	SUMF1 (D348N +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1578497	NM_182760.4(SUMF1):c.1101C>T (p.Ala367=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 969414	NM_182760.4(SUMF1):c.1091G>A (p.Arg364His)	SUMF1 (R344H +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2194199	NM_182760.4(SUMF1):c.1090C>T (p.Arg364Cys)	SUMF1 (R339C +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1997257	NM_182760.4(SUMF1):c.1087T>G (p.Phe363Val)	SUMF1 (F338V +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1086553	NM_182760.4(SUMF1):c.1083G>C (p.Leu361=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 459635	NM_182760.4(SUMF1):c.1077G>A (p.Ser359=)	SUMF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1418935	NM_182760.4(SUMF1):c.1076C>T (p.Ser359Leu)	SUMF1 (S334L +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2821154	NM_182760.4(SUMF1):c.1074T>C (p.Ala358=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2088512	NM_182760.4(SUMF1):c.1072G>A (p.Ala358Thr)	SUMF1 (A358T +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1421955	NM_182760.4(SUMF1):c.1070C>A (p.Ser357Tyr)	SUMF1 (S337Y +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2026354	NM_182760.4(SUMF1):c.1068C>T (p.Ser356=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1117767	NM_182760.4(SUMF1):c.1065T>C (p.Asp355=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2792522	NM_182760.4(SUMF1):c.1056C>T (p.Asn352=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2161926	NM_182760.4(SUMF1):c.1056C>G (p.Asn352Lys)	SUMF1 (N352K +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2769795	NM_182760.4(SUMF1):c.1047G>C (p.Arg349=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2734439	NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)	SUMF1 (R329P +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2667	NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)	SUMF1 (R349Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2666	NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)	SUMF1 (R349W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676	NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro)	SUMF1 (A348P +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GPathogenic
Select item 1068400	NM_182760.4(SUMF1):c.1040del (p.Ala347fs)	SUMF1 (A322fs +2 more)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 1353960	NM_182760.4(SUMF1):c.1039G>T (p.Ala347Ser)	SUMF1 (A322S +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1562618	NM_182760.4(SUMF1):c.1038T>C (p.Cys346=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2142781	NM_182760.4(SUMF1):c.1035C>T (p.Arg345=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1425494	NM_182760.4(SUMF1):c.1034G>A (p.Arg345His)	SUMF1 (R325H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2675	NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)	SUMF1 (R345C +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2083297	NM_182760.4(SUMF1):c.1023T>A (p.Cys341Ter)	SUMF1 (C316* +2 more)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 1519496	NM_182760.4(SUMF1):c.1022G>A (p.Cys341Tyr)	SUMF1 (C316Y +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1948188	NM_182760.4(SUMF1):c.1021T>G (p.Cys341Gly)	SUMF1 (C316G +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1982913	NM_182760.4(SUMF1):c.1020T>C (p.Tyr340=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2914990	NM_182760.4(SUMF1):c.1017T>G (p.Ser339=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1146951	NM_182760.4(SUMF1):c.1015-3_1015-2del	SUMF1	Microsatellite (splice acceptor variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1095211	NM_182760.4(SUMF1):c.1015-4A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1132186	NM_182760.4(SUMF1):c.1015-5C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1597480	NM_182760.4(SUMF1):c.1015-6A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2091562	NM_182760.4(SUMF1):c.1015-9T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1160646	NM_182760.4(SUMF1):c.1015-10C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1078951	NM_182760.4(SUMF1):c.1015-10C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2968485	NM_182760.4(SUMF1):c.1015-12C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1661279	NM_182760.4(SUMF1):c.1015-12C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2756570	NM_182760.4(SUMF1):c.1015-13T>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2826658	NM_182760.4(SUMF1):c.1015-17T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1582545	NM_182760.4(SUMF1):c.1015-17T>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2809401	NM_182760.4(SUMF1):c.1015-20T>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1493125	NM_182760.4(SUMF1):c.1014+20T>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2971264	NM_182760.4(SUMF1):c.1014+19C>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2154168	NM_182760.4(SUMF1):c.1014+16A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2966191	NM_182760.4(SUMF1):c.1014+15T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1988041	NM_182760.4(SUMF1):c.1014+9_1014+12dup	SUMF1	Duplication (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 900526	NM_182760.4(SUMF1):c.1014+12C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GConflicting classifications of pathogenicity
Select item 1601899	NM_182760.4(SUMF1):c.1014+9del	SUMF1	Deletion (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1119281	NM_182760.4(SUMF1):c.1014+9T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1100044	NM_182760.4(SUMF1):c.1014+7C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1443493	NM_182760.4(SUMF1):c.1014+3A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1447896	NM_182760.4(SUMF1):c.1004T>C (p.Met335Thr)	SUMF1 (M335T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple sulfatase deficiency	GUncertain significance
Select item 1411900	NM_182760.4(SUMF1):c.1003A>G (p.Met335Val)	SUMF1 (M310V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple sulfatase deficiency	GUncertain significance
Select item 1110228	NM_182760.4(SUMF1):c.1002C>T (p.Tyr334=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 1158645	NM_182760.4(SUMF1):c.999C>G (p.Ser333=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 1946312	NM_182760.4(SUMF1):c.998C>G (p.Ser333Cys)	SUMF1 (S308C +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple sulfatase deficiency	GUncertain significance
Select item 2665	NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)	SUMF1 (R327* +1 more)	Single nucleotide variant (nonsense +1 more)	Multiple sulfatase deficiency	GPathogenic
Select item 1606415	NM_182760.4(SUMF1):c.978C>T (p.Asp326=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2104908	NM_182760.4(SUMF1):c.975A>G (p.Lys325=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2042100	NM_182760.4(SUMF1):c.955-3_970del	SUMF1	Deletion (splice acceptor variant +1 more)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 1994753	NM_182760.4(SUMF1):c.966T>G (p.Pro322=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 1143076	NM_182760.4(SUMF1):c.966T>C (p.Pro322=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2822310	NM_182760.4(SUMF1):c.960T>C (p.Gly320=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2843420	NM_182760.4(SUMF1):c.959del (p.Gly320fs)	SUMF1 (G295fs +1 more)	Deletion (frameshift variant +1 more)	Multiple sulfatase deficiency	GPathogenic
Select item 1363242	NM_182760.4(SUMF1):c.955A>G (p.Lys319Glu)	SUMF1 (K294E +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple sulfatase deficiency	GUncertain significance
Select item 1505281	NM_182760.4(SUMF1):c.955-1G>T	SUMF1	Single nucleotide variant (splice acceptor variant +1 more)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 2183522	NM_182760.4(SUMF1):c.955-2A>G	SUMF1	Single nucleotide variant (splice acceptor variant +1 more)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 345314	NM_182760.4(SUMF1):c.955-6C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GConflicting classifications of pathogenicity
Select item 3015250	NM_182760.4(SUMF1):c.955-7T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1665665	NM_182760.4(SUMF1):c.955-7T>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2758747	NM_182760.4(SUMF1):c.955-8A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2701622	NM_182760.4(SUMF1):c.955-8A>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2040792	NM_182760.4(SUMF1):c.955-10T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1998735	NM_182760.4(SUMF1):c.955-10del	SUMF1	Deletion (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2974755	NM_182760.4(SUMF1):c.955-13T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2748495	NM_182760.4(SUMF1):c.955-15T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2842283	NM_182760.4(SUMF1):c.955-17T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1549948	NM_182760.4(SUMF1):c.955-17T>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2811623	NM_182760.4(SUMF1):c.955-19C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2885199	NM_182760.4(SUMF1):c.955-20C>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2978287	NM_182760.4(SUMF1):c.954+19G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3011132	NM_182760.4(SUMF1):c.954+18A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2954840	NM_182760.4(SUMF1):c.954+18A>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 765413	NM_182760.4(SUMF1):c.954+7A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GBenign
Select item 2203301	NM_182760.4(SUMF1):c.954+5G>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GPathogenic
Select item 1512964	NM_182760.4(SUMF1):c.954+1G>A	SUMF1	Single nucleotide variant (splice donor variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 968367	NM_182760.4(SUMF1):c.954+1G>T	SUMF1	Single nucleotide variant (splice donor variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 1429211	NM_182760.4(SUMF1):c.952C>T (p.Pro318Ser)	SUMF1 (P318S +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1448569	NM_182760.4(SUMF1):c.951C>G (p.Asn317Lys)	SUMF1 (N292K +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1926196	NM_182760.4(SUMF1):c.948T>C (p.Leu316=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2095020	NM_182760.4(SUMF1):c.945G>A (p.Thr315=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign

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