SEPTIN3[gene] - ClinVar

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Items: 45

	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 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 154653	GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3	CCDC134, CENPM +35 more	Copy number gain	See cases	GUncertain significance
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 738661	NM_001363845.2(SEPTIN3):c.1571C>T (p.Ala524Val)	SEPTIN3 (A26V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3160124	NM_001363845.2(SEPTIN3):c.1660A>G (p.Met554Val)	SEPTIN3 (M43V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160125	NM_001363845.2(SEPTIN3):c.1756C>T (p.Arg586Cys)	SEPTIN3 (R24C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160126	NM_001363845.2(SEPTIN3):c.1778G>A (p.Arg593Gln)	SEPTIN3 (R31Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160127	NM_001363845.2(SEPTIN3):c.1861G>A (p.Val621Ile)	SEPTIN3 (V110I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160128	NM_001363845.2(SEPTIN3):c.1887C>G (p.Asp629Glu)	SEPTIN3 (D522E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160129	NM_001363845.2(SEPTIN3):c.1931T>C (p.Ile644Thr)	SEPTIN3 (I82T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603822	NM_001363845.2(SEPTIN3):c.1988G>A (p.Arg663His)	SEPTIN3 (R109H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466241	NM_001363845.2(SEPTIN3):c.2089G>A (p.Val697Ile)	SEPTIN3 (V199I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624160	NM_001363845.2(SEPTIN3):c.2159A>G (p.Gln720Arg)	SEPTIN3 (Q222R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317491	NM_001363845.2(SEPTIN3):c.2162G>A (p.Arg721Lys)	SEPTIN3 (R678K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519642	NM_001363845.2(SEPTIN3):c.2319G>C (p.Lys773Asn)	SEPTIN3 (K211N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160123	NM_001363845.2(SEPTIN3):c.2504C>T (p.Pro835Leu)	SEPTIN3 (P835L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
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 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	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 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 979608	GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3	SREBF2, MEI1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979607	GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1	MEI1, MIR33A +14 more	Copy number loss	not provided	GUncertain significance
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 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565011	GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	NDUFA6, WBP2NL +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 443784	GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	ACO2, CCDC134 +22 more	Copy number gain	See cases	GUncertain significance
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 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 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
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: 45