PACSIN2[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2494276	NM_001184970.3(PACSIN2):c.1403G>A (p.Arg468His)	PACSIN2 (R470H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207911	NM_001184970.3(PACSIN2):c.1375G>A (p.Glu459Lys)	PACSIN2 (E418K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801741	NM_001184970.3(PACSIN2):c.1361C>G (p.Thr454Ser)	PACSIN2 (T374S +4 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2313057	NM_001184970.3(PACSIN2):c.1355A>G (p.Glu452Gly)	PACSIN2 (E452G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242613	NM_001184970.3(PACSIN2):c.1286T>C (p.Val429Ala)	PACSIN2 (V388A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323384	NM_001184970.3(PACSIN2):c.1274C>T (p.Ser425Leu)	PACSIN2 (S427L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207910	NM_001184970.3(PACSIN2):c.1229C>T (p.Thr410Met)	PACSIN2 (T330M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207909	NM_001184970.3(PACSIN2):c.1189G>T (p.Asp397Tyr)	PACSIN2 (D356Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597554	NM_001184970.3(PACSIN2):c.1181A>G (p.Tyr394Cys)	PACSIN2 (Y396C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467371	NM_001184970.3(PACSIN2):c.1165G>A (p.Glu389Lys)	PACSIN2 (E309K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262450	NM_001184970.3(PACSIN2):c.1124G>C (p.Ser375Thr)	PACSIN2 (S377T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207908	NM_001184970.3(PACSIN2):c.1013C>T (p.Pro338Leu)	PACSIN2 (P338L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303892	NM_001184970.3(PACSIN2):c.948G>C (p.Glu316Asp)	PACSIN2 (E316D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383580	NM_001184970.3(PACSIN2):c.799T>A (p.Tyr267Asn)	PACSIN2 (Y226N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653261	NM_001184970.3(PACSIN2):c.791A>C (p.Lys264Thr)	PACSIN2 (K223T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2399809	NM_001184970.3(PACSIN2):c.409G>A (p.Gly137Ser)	PACSIN2 (G137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207912	NM_001184970.3(PACSIN2):c.408C>T (p.Asp136=)	PACSIN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2374211	NM_001184970.3(PACSIN2):c.379G>A (p.Gly127Ser)	PACSIN2 (G86S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520766	NM_001184970.3(PACSIN2):c.254C>A (p.Ala85Asp)	PACSIN2 (A44D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342957	NM_001184970.3(PACSIN2):c.253G>A (p.Ala85Thr)	PACSIN2 (A85T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397069	NM_001184970.3(PACSIN2):c.235G>C (p.Val79Leu)	PACSIN2 (V79L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541156	NM_001184970.3(PACSIN2):c.233C>T (p.Thr78Ile)	PACSIN2 (T37I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384223	NM_001184970.3(PACSIN2):c.229G>A (p.Gly77Arg)	PACSIN2 (G77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349477	NM_001184970.3(PACSIN2):c.88C>T (p.Arg30Trp)	PACSIN2 (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 564972	GRCh37/hg19 22q13.2(chr22:43320567-43381459)x1	PACSIN2	Copy number loss	not provided	GUncertain significance

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Items: 25