SEPTIN4-AS1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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 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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2551880	NM_001368771.2(SEPTIN4):c.2173G>T (p.Val725Leu)	SEPTIN4-AS1, SEPTIN4 (V108L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2208820	NM_001368771.2(SEPTIN4):c.760G>A (p.Gly254Ser)	SEPTIN4-AS1, SEPTIN4 +1 more (G254S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2359930	NM_001368771.2(SEPTIN4):c.571C>T (p.Arg191Cys)	SEPTIN4-AS1, SEPTIN4 +1 more (R191C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240272	NM_001368771.2(SEPTIN4):c.317G>A (p.Ser106Asn)	SEPTIN4-AS1, C17orf47 +1 more (S106N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 21