RACGAP1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3150979	NM_001319999.2(RACGAP1):c.1832G>A (p.Ser611Asn)	RACGAP1 (S553N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230085	NM_001319999.2(RACGAP1):c.1824-45A>G	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229294	NM_001319999.2(RACGAP1):c.1823+118A>G	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232694	NM_001319999.2(RACGAP1):c.1821T>C (p.Pro607=)	RACGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2406197	NM_001319999.2(RACGAP1):c.1724T>C (p.Leu575Pro)	RACGAP1 (L501P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247109	NM_001319999.2(RACGAP1):c.1714+118A>G	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3150978	NM_001319999.2(RACGAP1):c.1660C>T (p.His554Tyr)	RACGAP1 (H480Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385782	NM_001319999.2(RACGAP1):c.1651G>A (p.Asp551Asn)	RACGAP1 (D551N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484266	NM_001319999.2(RACGAP1):c.1627A>T (p.Met543Leu)	RACGAP1 (M485L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262134	NM_001319999.2(RACGAP1):c.1578+13G>A	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2253499	NM_001319999.2(RACGAP1):c.1532A>G (p.Asn511Ser)	RACGAP1 (N437S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1295130	NM_001319999.2(RACGAP1):c.1445+38dup	RACGAP1	Duplication (intron variant)	not provided	GBenign
Select item 2642973	NM_001319999.2(RACGAP1):c.1419A>G (p.Leu473=)	RACGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150976	NM_001319999.2(RACGAP1):c.1391A>G (p.Glu464Gly)	RACGAP1 (E390G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1295156	NM_001319999.2(RACGAP1):c.1339+44G>A	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3150975	NM_001319999.2(RACGAP1):c.1298T>C (p.Leu433Pro)	RACGAP1 (L359P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344520	NM_001319999.2(RACGAP1):c.1294C>T (p.Pro432Ser)	RACGAP1 (P432S +3 more)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type IIIb +1 more	GPathogenic
Select item 2489235	NM_001319999.2(RACGAP1):c.1234G>C (p.Val412Leu)	RACGAP1 (V338L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344519	NM_001319999.2(RACGAP1):c.1187T>A (p.Leu396Gln)	RACGAP1 (L396Q +3 more)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type IIIb	GPathogenic
Select item 2314090	NM_001319999.2(RACGAP1):c.1084A>T (p.Ile362Phe)	RACGAP1 (I304F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224879	NM_001319999.2(RACGAP1):c.991T>G (p.Cys331Gly)	RACGAP1 (C331G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340780	NM_001319999.2(RACGAP1):c.988C>G (p.Arg330Gly)	RACGAP1 (R330G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150984	NM_001319999.2(RACGAP1):c.982C>T (p.Arg328Trp)	RACGAP1 (R254W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266255	NM_001319999.2(RACGAP1):c.880-70_880-69del	RACGAP1	Deletion (intron variant)	not provided	GBenign
Select item 1248112	NM_001319999.2(RACGAP1):c.880-69del	RACGAP1	Deletion (intron variant)	not provided	GBenign
Select item 1263500	NM_001319999.2(RACGAP1):c.880-194G>A	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2300714	NM_001319999.2(RACGAP1):c.868G>A (p.Val290Ile)	RACGAP1 (V290I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593827	NM_001319999.2(RACGAP1):c.776C>G (p.Ser259Cys)	RACGAP1 (S201C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229646	NM_001319999.2(RACGAP1):c.748+27C>A	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693582	NM_001319999.2(RACGAP1):c.658A>G (p.Thr220Ala)	RACGAP1 (T146A +3 more)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type IIIb +1 more	GPathogenic
Select item 2350101	NM_001319999.2(RACGAP1):c.586G>A (p.Gly196Arg)	RACGAP1 (G138R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369931	NM_001319999.2(RACGAP1):c.563G>A (p.Arg188Gln)	RACGAP1 (R114Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269242	NM_001319999.2(RACGAP1):c.549+29A>T	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286814	NM_001319999.2(RACGAP1):c.425+126T>C	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2385945	NM_001319999.2(RACGAP1):c.395A>C (p.Gln132Pro)	RACGAP1 (Q58P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150981	NM_001319999.2(RACGAP1):c.341G>T (p.Ser114Ile)	RACGAP1 (S114I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150980	NM_001319999.2(RACGAP1):c.236T>G (p.Val79Gly)	RACGAP1 (V79G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536773	NM_001319999.2(RACGAP1):c.194G>A (p.Arg65Gln)	RACGAP1 (R7Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150983	NM_001319999.2(RACGAP1):c.60G>C (p.Glu20Asp)	RACGAP1 (E32D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375433	NM_001319999.2(RACGAP1):c.49C>T (p.Arg17Cys)	RACGAP1 (R17C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1272931	NM_001319999.2(RACGAP1):c.-4-31G>A	RACGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710517	GRCh37/hg19 12q13.12(chr12:50331947-50439383)x3	AQP2, AQP5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 48