"Ambry Genetics"[submitter] AND "CATSPER2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529546	NM_172095.4(CATSPER2):c.1544A>T (p.Lys515Met)	CATSPER2 (K515M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471340	NM_172095.4(CATSPER2):c.1438G>A (p.Gly480Arg)	CATSPER2 (G478R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468636	NM_172095.4(CATSPER2):c.1436C>T (p.Pro479Leu)	CATSPER2 (P483L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261657	NM_172095.4(CATSPER2):c.1315G>A (p.Glu439Lys)	CATSPER2 (E439K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2591318	NM_172095.4(CATSPER2):c.1175A>C (p.Asp392Ala)	CATSPER2 (D392A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591317	NM_172095.4(CATSPER2):c.1173G>T (p.Glu391Asp)	CATSPER2 (E397D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2206020	NM_172095.4(CATSPER2):c.1027A>G (p.Asn343Asp)	CATSPER2 (N349D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608469	NM_172095.4(CATSPER2):c.904C>G (p.Leu302Val)	CATSPER2 (L302V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568962	NM_172095.4(CATSPER2):c.824A>G (p.Glu275Gly)	CATSPER2, LOC130056949 (E281G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258900	NM_172095.4(CATSPER2):c.812G>T (p.Arg271Leu)	CATSPER2, LOC130056949 (R271L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206205	NM_172095.4(CATSPER2):c.791C>T (p.Ser264Leu)	CATSPER2, LOC130056949 (S264L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508487	NM_172095.4(CATSPER2):c.761T>C (p.Ile254Thr)	CATSPER2, LOC130056949 (I254T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538872	NM_172095.4(CATSPER2):c.712C>T (p.Leu238Phe)	CATSPER2 (L238F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610336	NM_172095.4(CATSPER2):c.682C>A (p.Gln228Lys)	CATSPER2 (Q228K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411933	NM_172095.4(CATSPER2):c.605A>G (p.Gln202Arg)	CATSPER2 (Q202R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226879	NM_172095.4(CATSPER2):c.442G>T (p.Val148Leu)	CATSPER2 (V148L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569869	NM_172095.4(CATSPER2):c.352G>A (p.Val118Ile)	CATSPER2 (V118I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2285378	NM_172095.4(CATSPER2):c.293C>T (p.Ser98Phe)	CATSPER2 (S104F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616591	NM_172095.4(CATSPER2):c.146A>C (p.Asp49Ala)	CATSPER2 (D49A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232048	NM_172095.4(CATSPER2):c.121C>T (p.Arg41Trp)	CATSPER2 (R47W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541614	NM_172095.4(CATSPER2):c.107G>A (p.Ser36Asn)	CATSPER2 (S42N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256947	NM_172095.4(CATSPER2):c.69C>G (p.Ile23Met)	CATSPER2 (I23M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273125	NM_172095.4(CATSPER2):c.56G>A (p.Arg19His)	CATSPER2 (R19H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618238	NM_172095.4(CATSPER2):c.37C>T (p.Pro13Ser)	CATSPER2 (P19S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 24