ClinVar for Gene (Select 51604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377861	NM_015937.6(PIGT):c.1301T>A (p.Leu434Gln)	PIGT (L332Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375604	NM_015937.6(PIGT):c.794C>G (p.Ser265Cys)	PIGT (S163C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365083	NM_015937.6(PIGT):c.812C>T (p.Pro271Leu)	PIGT (P169L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359139	NM_015937.6(PIGT):c.17del (p.Pro6fs)	PIGT (P6fs)	Deletion (frameshift variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely pathogenic
Select item 3352812	NM_015937.6(PIGT):c.1611C>T (p.Ala537=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	PIGT-related disorder	GLikely benign
Select item 3345023	NM_015937.6(PIGT):c.970G>C (p.Ala324Pro)	PIGT (A222P +2 more)	Single nucleotide variant (missense variant +1 more)	PIGT-related disorder	GUncertain significance
Select item 3342910	NM_015937.6(PIGT):c.356C>T (p.Thr119Ile)	PIGT (T119I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3306521	NM_015937.6(PIGT):c.1181G>A (p.Arg394Gln)	PIGT (R338Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3306520	NM_015937.6(PIGT):c.587G>T (p.Ser196Ile)	PIGT (S94I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306519	NM_015937.6(PIGT):c.1388G>A (p.Gly463Asp)	PIGT (G396D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306518	NM_015937.6(PIGT):c.1706T>C (p.Ile569Thr)	PIGT (I467T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248307	NC_000020.10:g.(?_44044789)_(44054466_?)dup	PIGT	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3212841	NM_015937.6(PIGT):c.953A>G (p.Tyr318Cys)	PIGT (Y262C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212840	NM_015937.6(PIGT):c.919G>A (p.Val307Ile)	PIGT (V307I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3212839	NM_015937.6(PIGT):c.158G>T (p.Arg53Leu)	PIGT (R53L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212838	NM_015937.6(PIGT):c.1249C>G (p.Gln417Glu)	PIGT (Q350E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212837	NM_015937.6(PIGT):c.1201A>G (p.Thr401Ala)	PIGT (T299A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3027332	NM_015937.6(PIGT):c.270A>C (p.Thr90=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2683545	NM_015937.6(PIGT):c.1526A>G (p.Tyr509Cys)	PIGT (Y407C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2662663	NM_015937.6(PIGT):c.476C>T (p.Pro159Leu)	PIGT (P159L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2652351	NM_015937.6(PIGT):c.1370C>A (p.Thr457Lys)	PIGT (T355K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652350	NM_015937.6(PIGT):c.13A>G (p.Met5Val)	PIGT (M5V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2606578	NM_015937.6(PIGT):c.1043C>T (p.Pro348Leu)	PIGT (P246L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	not provided +1 more	GLikely pathogenic
Select item 2577121	NM_015937.6(PIGT):c.1570A>T (p.Met524Leu)	PIGT (M422L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573976	NM_015937.6(PIGT):c.41T>G (p.Leu14Arg)	PIGT (L14R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573929	NM_015937.6(PIGT):c.19C>G (p.Leu7Val)	PIGT (L7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571863	NM_015937.6(PIGT):c.411C>G (p.Ile137Met)	PIGT (I137M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2554585	NM_015937.6(PIGT):c.60G>C (p.Trp20Cys)	PIGT (W20C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506856	NM_015937.6(PIGT):c.1730C>T (p.Pro577Leu)	PIGT (P475L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505005	NM_015937.6(PIGT):c.1612G>A (p.Val538Met)	PIGT (V436M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2501989	NM_015937.6(PIGT):c.1234+5G>A	PIGT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2500682	NM_015937.6(PIGT):c.1298A>C (p.Gln433Pro)	PIGT (Q331P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2480385	NM_015937.6(PIGT):c.22G>C (p.Ala8Pro)	PIGT (A8P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466985	NM_015937.6(PIGT):c.1714G>A (p.Ala572Thr)	PIGT (A572T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462825	NM_015937.6(PIGT):c.1708C>T (p.Arg570Trp)	PIGT (R514W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461749	NM_015937.6(PIGT):c.1108A>G (p.Thr370Ala)	PIGT (T370A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2454196	NM_015937.6(PIGT):c.979A>C (p.Asn327His)	PIGT (N225H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434849	NM_015937.6(PIGT):c.82G>A (p.Asp28Asn)	PIGT (D28N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434848	NM_015937.6(PIGT):c.493+6A>T	PIGT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2428946	NM_015937.6(PIGT):c.1363G>A (p.Glu455Lys)	PIGT (E353K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2357246	NM_015937.6(PIGT):c.1130C>T (p.Pro377Leu)	PIGT (P321L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2310189	NM_015937.6(PIGT):c.1723G>T (p.Val575Phe)	PIGT (V575F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258375	NM_015937.6(PIGT):c.563C>A (p.Pro188His)	PIGT (P86H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242017	NM_015937.6(PIGT):c.1189G>T (p.Val397Leu)	PIGT (V397L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236859	NM_015937.6(PIGT):c.23C>T (p.Ala8Val)	PIGT (A8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228364	NM_015937.6(PIGT):c.366-6A>G	PIGT	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2226379	NM_015937.6(PIGT):c.1484+3A>G	PIGT	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2224894	NM_015937.6(PIGT):c.626G>A (p.Arg209His)	PIGT (R107H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218331	NM_015937.6(PIGT):c.1072G>T (p.Val358Leu)	PIGT (V302L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210247	NM_015937.6(PIGT):c.784C>T (p.Arg262Trp)	PIGT (R206W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GBenign
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)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +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)	Inborn genetic diseases +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 (non-coding transcript 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 (missense 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 (synonymous 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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149788	NM_015937.6(PIGT):c.25C>T (p.Leu9=)	PIGT	Single nucleotide variant (synonymous 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 (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance

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