ClinVar for Gene (Select 10430) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326808	NM_032635.4(TMEM147):c.295A>C (p.Ile99Leu)	TMEM147 (I99L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3178851	NM_032635.4(TMEM147):c.92C>T (p.Ala31Val)	TMEM147, TMEM147-AS1 (A31V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178850	NM_032635.4(TMEM147):c.548T>G (p.Met183Arg)	TMEM147 (M134R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178849	NM_032635.4(TMEM147):c.34C>T (p.Leu12Phe)	TMEM147, TMEM147-AS1 (L12F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178848	NM_032635.4(TMEM147):c.322A>G (p.Thr108Ala)	TMEM147 (T108A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178847	NM_032635.4(TMEM147):c.247G>C (p.Gly83Arg)	TMEM147 (G83R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178846	NM_032635.4(TMEM147):c.148-2A>G	TMEM147	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3059232	NM_032635.4(TMEM147):c.552-5T>C	TMEM147	Single nucleotide variant (intron variant)	TMEM147-related disorder	GLikely benign
Select item 3049903	NM_032635.4(TMEM147):c.344+10G>A	TMEM147	Single nucleotide variant (intron variant)	TMEM147-related disorder	GBenign
Select item 2826176	NM_032635.4(TMEM147):c.14A>C (p.His5Pro)	TMEM147, TMEM147-AS1 (H5P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2595489	NM_032635.4(TMEM147):c.632G>A (p.Ser211Asn)	TMEM147 (S162N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579524	NM_032635.4(TMEM147):c.601C>T (p.Arg201Ter)	TMEM147 (R127* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2578539	NM_032635.4(TMEM147):c.137A>C (p.Gln46Pro)	TMEM147, TMEM147-AS1 (Q46P)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GUncertain significance
Select item 2578538	NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro)	TMEM147, TMEM147-AS1 (A11P)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GUncertain significance
Select item 2571039	NM_032635.4(TMEM147):c.7C>T (p.Leu3=)	TMEM147, TMEM147-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2571038	NM_032635.4(TMEM147):c.6C>T (p.Thr2=)	TMEM147, TMEM147-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2299916	NM_032635.4(TMEM147):c.419A>G (p.Asn140Ser)	TMEM147 (N140S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273110	NM_032635.4(TMEM147):c.598G>A (p.Ala200Thr)	TMEM147 (A126T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234070	NM_032635.4(TMEM147):c.370C>T (p.Arg124Trp)	TMEM147 (R75W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230902	NM_032635.4(TMEM147):c.652G>A (p.Ala218Thr)	TMEM147 (A144T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216942	NM_032635.4(TMEM147):c.658G>A (p.Val220Ile)	TMEM147 (V146I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204802	NM_032635.4(TMEM147):c.203T>C (p.Ile68Thr)	TMEM147 (I68T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712322	NM_032635.4(TMEM147):c.163_172del (p.Thr55fs)	TMEM147 (T55fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1711115	NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)	TMEM147, TMEM147-AS1 (G7R)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly +2 more	GConflicting classifications of pathogenicity
Select item 1711114	NM_032635.4(TMEM147):c.169_172del (p.Phe57fs)	TMEM147 (F57fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708028	NM_032635.4(TMEM147):c.486C>G (p.Tyr162Ter)	TMEM147 (Y113* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708027	NM_032635.4(TMEM147):c.496C>T (p.Arg166Trp)	TMEM147 (R117W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708026	NM_032635.4(TMEM147):c.540_543dup (p.Val182fs)	TMEM147 (V108fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708025	NM_032635.4(TMEM147):c.390G>A (p.Trp130Ter)	TMEM147 (W130* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708024	NM_032635.4(TMEM147):c.345-1G>T	TMEM147	Single nucleotide variant (splice acceptor variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708023	NM_032635.4(TMEM147):c.344+5G>A	TMEM147	Single nucleotide variant (intron variant)	Poor speech +4 more	GPathogenic
Select item 1708022	NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)	TMEM147 (I133N +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708021	NM_032635.4(TMEM147):c.63C>G (p.Tyr21Ter)	TMEM147, TMEM147-AS1 (Y21*)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708020	NM_032635.4(TMEM147):c.419dup (p.Asn140fs)	TMEM147 (N140fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708019	NM_032635.4(TMEM147):c.100_118del (p.Lys34fs)	TMEM147, TMEM147-AS1 (K34fs)	Deletion (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53