RBM42[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	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 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 3152364	NM_024321.5(RBM42):c.32C>T (p.Pro11Leu)	RBM42 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397112	NM_024321.5(RBM42):c.215T>A (p.Val72Glu)	RBM42 (V72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464176	NM_024321.5(RBM42):c.337A>G (p.Met113Val)	RBM42 (M113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152365	NM_024321.5(RBM42):c.402C>G (p.Asp134Glu)	RBM42 (D134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568409	NM_024321.5(RBM42):c.416G>A (p.Arg139Gln)	RBM42 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313286	NM_024321.5(RBM42):c.473G>A (p.Arg158His)	RBM42 (R158H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152366	NM_024321.5(RBM42):c.517C>G (p.Leu173Val)	RBM42 (L173V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152367	NM_024321.5(RBM42):c.535G>A (p.Gly179Ser)	RBM42 (G150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152368	NM_024321.5(RBM42):c.541C>A (p.Arg181Ser)	RBM42 (R181S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483271	NM_024321.5(RBM42):c.541C>T (p.Arg181Cys)	RBM42 (R181C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313284	NM_024321.5(RBM42):c.544C>A (p.Pro182Thr)	RBM42 (P182T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152369	NM_024321.5(RBM42):c.635G>A (p.Arg212Gln)	RBM42 (R183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275782	NM_024321.5(RBM42):c.649C>A (p.Pro217Thr)	RBM42 (P188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399788	NM_024321.5(RBM42):c.718G>C (p.Gly240Arg)	RBM42 (G211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313285	NM_024321.5(RBM42):c.761C>T (p.Ala254Val)	RBM42 (A225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323304	NM_024321.5(RBM42):c.764C>T (p.Ala255Val)	RBM42 (A255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534869	NM_024321.5(RBM42):c.791C>T (p.Ala264Val)	RBM42 (A264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531239	NM_024321.5(RBM42):c.802G>A (p.Val268Met)	RBM42 (V239M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378403	NM_024321.5(RBM42):c.884C>T (p.Pro295Leu)	RBM42 (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408347	NM_024321.5(RBM42):c.983G>A (p.Arg328Gln)	RBM42 (R299Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538336	NM_024321.5(RBM42):c.1012C>G (p.Leu338Val)	RBM42 (L309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392027	NM_024321.5(RBM42):c.1030C>A (p.Leu344Met)	RBM42 (L315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333091	NM_024321.5(RBM42):c.1165G>A (p.Gly389Ser)	RBM42 (G360S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152362	NM_024321.5(RBM42):c.1198G>A (p.Ala400Thr)	RBM42 (A371T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152363	NM_024321.5(RBM42):c.1279G>A (p.Val427Ile)	RBM42 (V398I +1 more)	Single nucleotide variant (missense variant)	not specified	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 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
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

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Items: 43