PIGT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 1239948	NC_000020.11:g.45415871G>A	PIGT	Single nucleotide variant	not provided	GBenign
Select item 1302858	NC_000020.11:g.45415882TTA[1]	PIGT	Microsatellite	not provided	GBenign
Select item 1142730	NM_015937.6(PIGT):c.6G>C (p.Ala2=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1372668	NM_015937.6(PIGT):c.8C>T (p.Ala3Val)	PIGT (A3V)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 741217	NM_015937.6(PIGT):c.12T>C (p.Ala4=)	PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	PIGT-related disorder +2 more	GBenign/Likely benign
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 1206229	NM_015937.6(PIGT):c.14T>C (p.Met5Thr)	PIGT (M5T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 580412	NM_015937.6(PIGT):c.22G>T (p.Ala8Ser)	PIGT (A8S)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	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 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 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 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 +1 more	GBenign/Likely benign
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 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 576071	NM_015937.6(PIGT):c.57del (p.Trp20fs)	PIGT (W20fs)	Deletion (frameshift variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GPathogenic
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 1359404	NM_015937.6(PIGT):c.61T>G (p.Cys21Gly)	PIGT (C21G)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
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 1020310	NM_015937.6(PIGT):c.74C>T (p.Pro25Leu)	PIGT (P25L)	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 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 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 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 1657178	NM_015937.6(PIGT):c.135C>T (p.Ala45=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
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 1402873	NM_015937.6(PIGT):c.167C>T (p.Ser56Leu)	PIGT (S56L)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1301238	NM_015937.6(PIGT):c.187+24G>A	PIGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575916	NM_015937.6(PIGT):c.188-12C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 420919	NM_015937.6(PIGT):c.188-2A>G	PIGT	Single nucleotide variant (splice acceptor variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1418899	NM_015937.6(PIGT):c.190T>C (p.Ser64Pro)	PIGT (S64P)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1012483	NM_015937.6(PIGT):c.192C>A (p.Ser64=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 548927	NM_015937.6(PIGT):c.197del (p.Tyr66fs)	PIGT (Y66fs)	Deletion (frameshift variant +2 more)	Paroxysmal nocturnal hemoglobinuria 2	Grisk factor
Select item 1080877	NM_015937.6(PIGT):c.204C>T (p.Leu68=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 591553	NM_015937.6(PIGT):c.209C>T (p.Pro70Leu)	PIGT (P70L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1911338	NM_015937.6(PIGT):c.221G>T (p.Gly74Val)	PIGT (G74V)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 1331559	NM_015937.6(PIGT):c.245_246del (p.Leu82fs)	PIGT (L82fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 225546	NM_015937.6(PIGT):c.250G>T (p.Glu84Ter)	PIGT (E84*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1475702	NM_015937.6(PIGT):c.262T>C (p.Ser88Pro)	PIGT (S88P)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
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 3027332	NM_015937.6(PIGT):c.270A>C (p.Thr90=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1418074	NM_015937.6(PIGT):c.271C>T (p.Gln91Ter)	PIGT (Q91*)	Single nucleotide variant (nonsense +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GPathogenic
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 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 778895	NM_015937.6(PIGT):c.306C>T (p.Pro102=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 634500	NM_015937.6(PIGT):c.347T>A (p.Phe116Tyr)	PIGT (F116Y)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
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 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 1203325	NM_015937.6(PIGT):c.365+194G>A	PIGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236450	NM_015937.6(PIGT):c.365+236A>C	PIGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225347	NM_015937.6(PIGT):c.365+276G>A	PIGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300673	NM_015937.6(PIGT):c.365+293G>T	PIGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300803	NM_015937.6(PIGT):c.366-328C>T	PIGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258068	NM_015937.6(PIGT):c.366-184G>A	PIGT	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2228364	NM_015937.6(PIGT):c.366-6A>G	PIGT	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 758560	NM_015937.6(PIGT):c.366-5T>C	PIGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 252704	NM_015937.6(PIGT):c.367G>T (p.Val123Leu)	PIGT (V123L)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +2 more	GBenign/Likely benign
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 1089894	NM_015937.6(PIGT):c.417C>T (p.Cys139=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1304132	NM_015937.6(PIGT):c.424C>T (p.Leu142Phe)	PIGT (L142F)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GUncertain significance
Select item 764307	NM_015937.6(PIGT):c.432C>T (p.Phe144=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1572542	NM_015937.6(PIGT):c.438C>T (p.Asp146=)	PIGT	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
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 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 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 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 2434848	NM_015937.6(PIGT):c.493+6A>T	PIGT	Single nucleotide variant (intron variant)	not provided	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 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 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 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 541407	NM_015937.6(PIGT):c.494-5C>T	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GLikely benign
Select item 583283	NM_015937.6(PIGT):c.494-2A>G	PIGT	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GPathogenic
Select item 576072	NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)	PIGT (R172C +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GConflicting classifications of pathogenicity
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 788254	NM_015937.6(PIGT):c.531G>A (p.Pro177=)	PIGT	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +2 more	GLikely benign
Select item 1496134	NM_015937.6(PIGT):c.532C>T (p.Arg178Trp)	PIGT (R76W +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 474456	NM_015937.6(PIGT):c.533G>A (p.Arg178Gln)	PIGT (R178Q +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more	GBenign
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 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	GUncertain significance
Select item 64649	NM_015937.6(PIGT):c.547A>C (p.Thr183Pro)	PIGT (T183P +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely pathogenic
Select item 547166	NM_015937.6(PIGT):c.550G>A (p.Glu184Lys)	PIGT (E184K +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GConflicting classifications of pathogenicity
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 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 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 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 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 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 719270	NM_015937.6(PIGT):c.594+9G>A	PIGT	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 1250938	NM_015937.6(PIGT):c.594+36dup	PIGT	Duplication (intron variant)	not provided +2 more	GBenign
Select item 1191833	NM_015937.6(PIGT):c.594+30C>G	PIGT	Single nucleotide variant (intron variant)	not provided	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

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