RBM38-AS1[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	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 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
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 59000	GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3	BMP7, BMP7-AS1 +20 more	Copy number gain	See cases	GUncertain significance
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 2219158	NM_017495.6(RBM38):c.23G>A (p.Cys8Tyr)	RBM38, RBM38-AS1 (C8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541061	NM_017495.6(RBM38):c.49C>T (p.Pro17Ser)	RBM38, RBM38-AS1 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466095	NM_017495.6(RBM38):c.53T>C (p.Leu18Pro)	RBM38, RBM38-AS1 (L18P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 789858	NM_017495.6(RBM38):c.62C>T (p.Pro21Leu)	RBM38, RBM38-AS1 (P21L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3431354	NM_017495.6(RBM38):c.104A>G (p.Lys35Arg)	RBM38, RBM38-AS1 (K35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152342	NM_017495.6(RBM38):c.158A>G (p.Tyr53Cys)	RBM38, RBM38-AS1 (Y53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3431353	NM_017495.6(RBM38):c.269G>A (p.Arg90Lys)	RBM38, RBM38-AS1 (R122K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3431351	NM_017495.6(RBM38):c.270G>T (p.Arg90Ser)	RBM38, RBM38-AS1 (R90S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3152343	NM_017495.6(RBM38):c.320A>G (p.Asn107Ser)	RBM38, RBM38-AS1 (N107S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance