ClinVar for Gene (Select 140700) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316069	NM_080621.5(SAMD10):c.400A>T (p.Asn134Tyr)	SAMD10 (N134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248317	NC_000020.10:g.(?_61990880)_(62680869_?)del	ABHD16B, ARFRP1 +23 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3157627	NM_080621.5(SAMD10):c.463C>G (p.Leu155Val)	SAMD10 (L155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157626	NM_080621.5(SAMD10):c.409G>A (p.Val137Ile)	SAMD10 (V137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157625	NM_080621.5(SAMD10):c.328G>T (p.Gly110Cys)	SAMD10 (G110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157624	NM_080621.5(SAMD10):c.277C>T (p.Arg93Trp)	SAMD10 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2605032	NM_080621.5(SAMD10):c.115C>T (p.Arg39Trp)	SAMD10 (R39W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2572952	NM_080621.5(SAMD10):c.92-4A>G	SAMD10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2550970	NM_080621.5(SAMD10):c.215G>A (p.Arg72Lys)	SAMD10 (R72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484690	NM_080621.5(SAMD10):c.373A>C (p.Lys125Gln)	SAMD10 (K125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459776	NM_080621.5(SAMD10):c.337C>T (p.Arg113Trp)	SAMD10 (R113W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425821	NC_000020.10:g.(?_62559699)_(62680869_?)dup	DNAJC5, PRPF6 +4 more	Duplication	not provided	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	ABHD16B, ADRM1 +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2347554	NM_080621.5(SAMD10):c.77G>A (p.Arg26His)	SAMD10 (R26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345894	NM_080621.5(SAMD10):c.80G>C (p.Arg27Pro)	SAMD10 (R27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336137	NM_080621.5(SAMD10):c.275G>A (p.Gly92Asp)	SAMD10 (G92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330234	NM_080621.5(SAMD10):c.602T>C (p.Met201Thr)	SAMD10 (M201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310508	NM_080621.5(SAMD10):c.121C>T (p.Leu41Phe)	SAMD10 (L41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235412	NM_080621.5(SAMD10):c.278G>A (p.Arg93Gln)	SAMD10 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222020	NM_080621.5(SAMD10):c.206G>A (p.Arg69His)	SAMD10 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215085	NM_080621.5(SAMD10):c.195G>C (p.Trp65Cys)	SAMD10 (W65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	HELZ2, DIDO1 +51 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	PCMTD2, SAMD10 +47 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	NKAIN4, COL20A1 +44 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	UCKL1, ZGPAT +27 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1023510	NC_000020.10:g.(?_62559699)_(62656066_?)dup	DNAJC5, PRPF6 +3 more	Duplication	not provided	GUncertain significance
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	SLCO4A1, TPD52L2 +49 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 979739	GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	PRPF6, TCEA2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 441693	GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1	LKAAEAR1, MYT1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 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 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 57315	GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	ABHD16B, C20orf181 +63 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 68