ClinVar for MedGen (Select 815686) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248307	NC_000020.10:g.(?_44044789)_(44054466_?)dup	PIGT	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 3001657	NM_015937.6(PIGT):c.1153C>T (p.Leu385=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 3001613	NM_015937.6(PIGT):c.1155G>A (p.Leu385=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2995955	NM_015937.6(PIGT):c.1043del (p.Pro348fs)	PIGT (P348fs +2 more)	Deletion (frameshift variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GPathogenic
Select item 2977411	NM_015937.6(PIGT):c.769+5G>A	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2918339	NM_015937.6(PIGT):c.573G>A (p.Lys191=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2915346	NM_015937.6(PIGT):c.1257C>T (p.Ala419=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2911529	NM_015937.6(PIGT):c.1560G>A (p.Pro520=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2905834	NM_015937.6(PIGT):c.1126C>G (p.His376Asp)	PIGT (H320D +2 more)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2858618	NM_015937.6(PIGT):c.1400+15C>A	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2857305	NM_015937.6(PIGT):c.1650C>T (p.Thr550=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2830554	NM_015937.6(PIGT):c.1059T>C (p.His353=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2810957	NM_015937.6(PIGT):c.1578C>T (p.Tyr526=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2772462	NM_015937.6(PIGT):c.770-14G>A	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2761305	NM_015937.6(PIGT):c.1362C>T (p.Thr454=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2748769	NM_015937.6(PIGT):c.471C>T (p.Phe157=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2746978	NM_015937.6(PIGT):c.1594dup (p.Thr532fs)	PIGT (T430fs +3 more)	Duplication (frameshift variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2727959	NM_015937.6(PIGT):c.1485-12C>T	MIR6812, PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GBenign
Select item 2725129	NM_015937.6(PIGT):c.365+13C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2720362	NM_015937.6(PIGT):c.1646G>A (p.Arg549Gln)	PIGT (R447Q +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2712672	NM_015937.6(PIGT):c.681+8A>G	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2672251	NM_015937.6(PIGT):c.1730del (p.Pro577fs)	PIGT (P475fs +3 more)	Deletion (frameshift variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2585406	NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)	PIGT (E135Q +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2431775	NM_015937.6(PIGT):c.1553C>G (p.Pro518Arg)	PIGT (P416R +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2202052	NM_015937.6(PIGT):c.1264C>T (p.Arg422Trp)	PIGT (R366W +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2199877	NM_015937.6(PIGT):c.1575C>G (p.Pro525=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2199423	NM_015937.6(PIGT):c.33C>T (p.Val11=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	PIGT-related disorder +1 more	GBenign/Likely benign
Select item 2198674	NM_015937.6(PIGT):c.1346C>T (p.Ala449Val)	PIGT (A347V +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2198226	NM_015937.6(PIGT):c.1634A>G (p.Asn545Ser)	PIGT (N443S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2196280	NM_015937.6(PIGT):c.925C>G (p.Leu309Val)	PIGT (L207V +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 2192835	NM_015937.6(PIGT):c.1712G>A (p.Arg571His)	PIGT (R504H +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2189742	NM_015937.6(PIGT):c.770-15C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2186591	NM_015937.6(PIGT):c.837A>T (p.Arg279=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2186263	NM_015937.6(PIGT):c.688C>T (p.Arg230Cys)	PIGT (R128C +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2185278	NM_015937.6(PIGT):c.770-9G>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2184568	NM_015937.6(PIGT):c.108C>T (p.Ile36=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2184544	NM_015937.6(PIGT):c.1529C>T (p.Thr510Met)	PIGT (T510M +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 2178968	NM_015937.6(PIGT):c.1713C>A (p.Arg571=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2176014	NM_015937.6(PIGT):c.293A>G (p.Tyr98Cys)	PIGT (Y98C)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2174708	NM_015937.6(PIGT):c.366-17T>C	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2173731	NM_015937.6(PIGT):c.1485-20C>T	MIR6812, PIGT	Single nucleotide variant (intron variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2173722	NM_015937.6(PIGT):c.752C>T (p.Thr251Met)	PIGT (T149M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2173239	NM_015937.6(PIGT):c.1660G>A (p.Glu554Lys)	PIGT (E452K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2173094	NM_015937.6(PIGT):c.1200C>T (p.Leu400=)	PIGT	Single nucleotide variant (non-coding transcript variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2162713	NM_015937.6(PIGT):c.70G>A (p.Glu24Lys)	PIGT (E24K)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 2149788	NM_015937.6(PIGT):c.25C>T (p.Leu9=)	PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2149328	NM_015937.6(PIGT):c.264A>G (p.Ser88=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2144277	NM_015937.6(PIGT):c.365+17G>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2141565	NM_015937.6(PIGT):c.1613T>C (p.Val538Ala)	PIGT (V482A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2141230	NM_015937.6(PIGT):c.1235-15C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2140532	NM_015937.6(PIGT):c.842A>G (p.Tyr281Cys)	PIGT (Y179C +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2137538	NM_015937.6(PIGT):c.435C>T (p.Ile145=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2132886	NM_015937.6(PIGT):c.1084G>T (p.Gly362Trp)	PIGT (G260W +2 more)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2132488	NM_015937.6(PIGT):c.1485-19G>A	MIR6812, PIGT	Single nucleotide variant (intron variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2128623	NM_015937.6(PIGT):c.295T>G (p.Trp99Gly)	PIGT (W99G)	Single nucleotide variant (non-coding transcript variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2127247	NM_015937.6(PIGT):c.662A>G (p.His221Arg)	PIGT (H119R +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2111537	NM_015937.6(PIGT):c.1571T>C (p.Met524Thr)	PIGT (M457T +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2102424	NM_015937.6(PIGT):c.493+11C>A	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2101832	NM_015937.6(PIGT):c.725T>A (p.Leu242Gln)	PIGT (L186Q +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2086961	NM_015937.6(PIGT):c.1669C>T (p.Arg557Cys)	PIGT (R501C +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2084011	NM_015937.6(PIGT):c.1284G>A (p.Leu428=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2082703	NM_015937.6(PIGT):c.494-10T>G	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2080734	NM_015937.6(PIGT):c.1641C>T (p.Leu547=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2075578	NM_015937.6(PIGT):c.886G>A (p.Val296Met)	PIGT (V194M +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 2074615	NM_015937.6(PIGT):c.580C>T (p.Pro194Ser)	PIGT (P138S +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2074479	NM_015937.6(PIGT):c.1620_1621inv (p.Gly541Ser)	PIGT (G474S +3 more)	Inversion (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2073377	NM_015937.6(PIGT):c.581C>T (p.Pro194Leu)	PIGT (P194L +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 2070970	NM_015937.6(PIGT):c.595-5_595-3del	PIGT	Microsatellite (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2070333	NM_015937.6(PIGT):c.1502G>A (p.Gly501Asp)	PIGT (G399D +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2062041	NM_015937.6(PIGT):c.668G>A (p.Arg223His)	PIGT (R121H +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2061880	NM_015937.6(PIGT):c.667C>T (p.Arg223Cys)	PIGT (R121C +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2054035	NM_015937.6(PIGT):c.770-12T>A	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2051995	NM_015937.6(PIGT):c.23C>G (p.Ala8Gly)	PIGT (A8G)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2048732	NM_015937.6(PIGT):c.1683G>A (p.Leu561=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2048171	NM_015937.6(PIGT):c.1180C>T (p.Arg394Trp)	PIGT (R394W +2 more)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2045465	NM_015937.6(PIGT):c.527T>C (p.Leu176Pro)	PIGT (L120P +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2032789	NM_015937.6(PIGT):c.1440A>T (p.Ala480=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2030623	NM_015937.6(PIGT):c.564del (p.Trp189fs)	PIGT (W133fs +2 more)	Deletion (frameshift variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GPathogenic
Select item 2028342	NM_015937.6(PIGT):c.366-8C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2016001	NM_015937.6(PIGT):c.19C>T (p.Leu7Phe)	PIGT (L7F)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 2003377	NM_015937.6(PIGT):c.81C>G (p.Arg27=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2002859	NM_015937.6(PIGT):c.1125C>T (p.Thr375=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1997747	NM_015937.6(PIGT):c.578T>G (p.Leu193Trp)	PIGT (L91W +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1997331	NM_015937.6(PIGT):c.1297C>G (p.Gln433Glu)	PIGT (Q331E +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1996179	NM_015937.6(PIGT):c.458C>T (p.Pro153Leu)	PIGT (P153L)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1985279	NM_015937.6(PIGT):c.493+16C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1984577	NM_015937.6(PIGT):c.545G>A (p.Cys182Tyr)	PIGT (C182Y +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 1983296	NM_015937.6(PIGT):c.625C>T (p.Arg209Cys)	PIGT (R107C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1981911	NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)	PIGT (P316A +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1980888	NM_015937.6(PIGT):c.484C>T (p.Leu162=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1979722	NM_015937.6(PIGT):c.1266G>A (p.Arg422=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1972536	NM_015937.6(PIGT):c.543C>T (p.Val181=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1961491	NM_015937.6(PIGT):c.742G>T (p.Ala248Ser)	PIGT (A146S +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 1951861	NM_015937.6(PIGT):c.46G>T (p.Gly16Trp)	PIGT (G16W)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1949869	NM_015937.6(PIGT):c.494-16C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1945195	NM_015937.6(PIGT):c.113C>T (p.Pro38Leu)	PIGT (P38L)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1942550	NM_015937.6(PIGT):c.1304C>T (p.Pro435Leu)	PIGT (P379L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1934129	NM_015937.6(PIGT):c.1008C>T (p.Leu336=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1933608	NM_015937.6(PIGT):c.595-10T>A	PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1925669	NM_015937.6(PIGT):c.1036G>C (p.Ala346Pro)	PIGT (A244P +2 more)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance

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