PACSIN2[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 221772	GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1	ARFGAP3, LOC112695101 +19 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
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 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 149875	GRCh38/hg38 22q13.2(chr22:42903977-43046322)x1	LOC112695101, LOC112695102 +9 more	Copy number loss	See cases	GLikely benign
Select item 152139	GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3	LOC130067622, LOC130067623 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2684938	GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3	ARFGAP3, BIK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 686725	GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1	ARFGAP3, PACSIN2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 564972	GRCh37/hg19 22q13.2(chr22:43320567-43381459)x1	PACSIN2	Copy number loss	not provided	GUncertain significance
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 71