SEPTIN4[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 3160138	NM_001368771.2(SEPTIN4):c.2968A>G (p.Lys990Glu)	SEPTIN4, SEPTIN4-AS1 (K453E +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160137	NM_001368771.2(SEPTIN4):c.2945A>T (p.Gln982Leu)	SEPTIN4, SEPTIN4-AS1 (Q317L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160136	NM_001368771.2(SEPTIN4):c.2942T>C (p.Met981Thr)	SEPTIN4, SEPTIN4-AS1 (M316T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778530	NM_001368771.2(SEPTIN4):c.2929G>A (p.Glu977Lys)	SEPTIN4-AS1, SEPTIN4 (E312K +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2616140	NM_001368771.2(SEPTIN4):c.2915G>A (p.Arg972Gln)	SEPTIN4, SEPTIN4-AS1 (R307Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160135	NM_001368771.2(SEPTIN4):c.2842C>T (p.Arg948Trp)	SEPTIN4, SEPTIN4-AS1 (R423W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160134	NM_001368771.2(SEPTIN4):c.2835A>C (p.Lys945Asn)	SEPTIN4, SEPTIN4-AS1 (K328N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160133	NM_001368771.2(SEPTIN4):c.2804G>A (p.Arg935His)	SEPTIN4, SEPTIN4-AS1 (R398H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160132	NM_001368771.2(SEPTIN4):c.2776C>T (p.Arg926Trp)	SEPTIN4, SEPTIN4-AS1 (R389W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529051	NM_001368771.2(SEPTIN4):c.2762A>G (p.His921Arg)	SEPTIN4, SEPTIN4-AS1 (H384R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489289	NM_001368771.2(SEPTIN4):c.2686T>C (p.Cys896Arg)	SEPTIN4, SEPTIN4-AS1 (C231R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609562	NM_001368771.2(SEPTIN4):c.2680G>T (p.Gly894Trp)	SEPTIN4, SEPTIN4-AS1 (G368W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160130	NM_001368771.2(SEPTIN4):c.2594T>C (p.Ile865Thr)	SEPTIN4, SEPTIN4-AS1 (I865T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460601	NM_001368771.2(SEPTIN4):c.2500A>G (p.Lys834Glu)	SEPTIN4, SEPTIN4-AS1 (K297E +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160145	NM_001368771.2(SEPTIN4):c.2483T>C (p.Ile828Thr)	SEPTIN4, SEPTIN4-AS1 (I291T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490983	NM_001368771.2(SEPTIN4):c.2230G>A (p.Ala744Thr)	SEPTIN4, SEPTIN4-AS1 (A218T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551880	NM_001368771.2(SEPTIN4):c.2173G>T (p.Val725Leu)	SEPTIN4, SEPTIN4-AS1 (V108L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160144	NM_001368771.2(SEPTIN4):c.2161C>T (p.Arg721Trp)	SEPTIN4, SEPTIN4-AS1 (R104W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556881	NM_001368771.2(SEPTIN4):c.2132T>C (p.Val711Ala)	SEPTIN4, SEPTIN4-AS1 (V186A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740880	NM_001368771.2(SEPTIN4):c.2073G>A (p.Arg691=)	SEPTIN4, SEPTIN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2596201	NM_001368771.2(SEPTIN4):c.2065C>T (p.Arg689Trp)	SEPTIN4, SEPTIN4-AS1 (R163W +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160143	NM_001368771.2(SEPTIN4):c.2035G>A (p.Val679Ile)	SEPTIN4, SEPTIN4-AS1 (V142I +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545727	NM_001368771.2(SEPTIN4):c.1921G>C (p.Glu641Gln)	SEPTIN4, SEPTIN4-AS1 (E115Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160142	NM_001368771.2(SEPTIN4):c.1802G>C (p.Arg601Pro)	SEPTIN4, SEPTIN4-AS1 (R64P +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160141	NM_001368771.2(SEPTIN4):c.1802G>A (p.Arg601Gln)	SEPTIN4, SEPTIN4-AS1 (R76Q +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2619445	NM_001368771.2(SEPTIN4):c.1793C>A (p.Pro598His)	SEPTIN4, SEPTIN4-AS1 (P61H +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160140	NM_001368771.2(SEPTIN4):c.1769A>G (p.Tyr590Cys)	SEPTIN4, SEPTIN4-AS1 (Y590C +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3160139	NM_001368771.2(SEPTIN4):c.1708G>T (p.Ala570Ser)	SEPTIN4, SEPTIN4-AS1 (A44S +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160131	NM_001368771.2(SEPTIN4):c.1666G>A (p.Val556Met)	SEPTIN4, SEPTIN4-AS1 (V30M +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160146	NM_001368771.2(SEPTIN4):c.1651G>A (p.Glu551Lys)	SEPTIN4, SEPTIN4-AS1 (E551K +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2589498	NM_001368771.2(SEPTIN4):c.1640C>T (p.Thr547Met)	SEPTIN4, SEPTIN4-AS1 (T10M +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2517742	NM_001368771.2(SEPTIN4):c.1622G>A (p.Arg541His)	SEPTIN4, SEPTIN4-AS1 (R4H +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2208820	NM_001368771.2(SEPTIN4):c.760G>A (p.Gly254Ser)	C17orf47, SEPTIN4 +1 more (G254S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359930	NM_001368771.2(SEPTIN4):c.571C>T (p.Arg191Cys)	C17orf47, SEPTIN4 +1 more (R191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240272	NM_001368771.2(SEPTIN4):c.317G>A (p.Ser106Asn)	C17orf47, SEPTIN4 +1 more (S106N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	TEX14, TRIM25 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1042799	NC_000017.10:g.(?_56432304)_(56811583_?)dup	C17orf47, HSF5 +5 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic

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Items: 48