RABL2A[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150936	NM_001306158.2(RABL2A):c.5C>T (p.Ala2Val)	RABL2A (A2V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509358	NM_001306158.2(RABL2A):c.10G>A (p.Asp4Asn)	RABL2A (D4N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367621	NM_001306158.2(RABL2A):c.23C>T (p.Pro8Leu)	RABL2A (P8L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606090	NM_001306158.2(RABL2A):c.26G>A (p.Ser9Asn)	RABL2A (S9N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255344	NM_001306158.2(RABL2A):c.77G>A (p.Cys26Tyr)	RABL2A (C26Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297319	NM_001306158.2(RABL2A):c.112A>C (p.Met38Leu)	RABL2A (M38L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150933	NM_001306158.2(RABL2A):c.166C>G (p.Leu56Val)	RABL2A (L56V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384189	NM_001306158.2(RABL2A):c.243G>T (p.Glu81Asp)	RABL2A (E81D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2386228	NM_001306158.2(RABL2A):c.269A>C (p.Tyr90Ser)	RABL2A (Y5S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459829	NM_001306158.2(RABL2A):c.295A>G (p.Met99Val)	RABL2A (M14V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459214	NM_001306158.2(RABL2A):c.398A>G (p.Asn133Ser)	RABL2A (N41S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215080	NM_001306158.2(RABL2A):c.413A>C (p.Asp138Ala)	RABL2A (D137A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284364	NM_001306158.2(RABL2A):c.421G>A (p.Val141Met)	RABL2A (V140M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150935	NM_001306158.2(RABL2A):c.497A>G (p.Asn166Ser)	RABL2A (N166S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320600	NM_001306158.2(RABL2A):c.527G>A (p.Arg176Gln)	RABL2A (R83Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597758	NM_001306158.2(RABL2A):c.629A>C (p.Asp210Ala)	RABL2A (D125A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340383	GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3	ACTR3, CBWD2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 980473	GRCh37/hg19 2q13-14.1(chr2:114384165-114530210)x1	SLC35F5, RABL2A	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 31