"PreventionGenetics, part of Exact Sciences"[submitter] AND "KATNIP"[g - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2913310	NM_015202.5(KATNIP):c.252G>A (p.Pro84=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GLikely benign
Select item 3036283	NM_015202.5(KATNIP):c.395G>A (p.Arg132Gln)	KATNIP (R132Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3031899	NM_015202.5(KATNIP):c.420G>A (p.Gln140=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition	GLikely benign
Select item 736537	NM_015202.5(KATNIP):c.1016A>T (p.Asp339Val)	KATNIP (D339V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 789083	NM_015202.5(KATNIP):c.1104C>T (p.Ser368=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GBenign
Select item 2080700	NM_015202.5(KATNIP):c.1113+4C>A	KATNIP	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 787442	NM_015202.5(KATNIP):c.1113+5G>A	KATNIP	Single nucleotide variant (intron variant)	KATNIP-related condition +1 more	GBenign
Select item 715680	NM_015202.5(KATNIP):c.1113+10G>T	KATNIP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2629526	NM_015202.5(KATNIP):c.1387G>T (p.Glu463Ter)	KATNIP (E463*)	Single nucleotide variant (nonsense)	KATNIP-related condition	GLikely pathogenic
Select item 740532	NM_015202.5(KATNIP):c.1470G>A (p.Ser490=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 724776	NM_015202.5(KATNIP):c.1764G>A (p.Lys588=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GBenign/Likely benign
Select item 2197677	NM_015202.5(KATNIP):c.1879G>A (p.Glu627Lys)	KATNIP (E627K)	Single nucleotide variant (missense variant)	KATNIP-related condition +2 more	GBenign/Likely benign
Select item 725960	NM_015202.5(KATNIP):c.2277C>T (p.Pro759=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2636924	NM_015202.5(KATNIP):c.2444G>A (p.Gly815Glu)	KATNIP (G815E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 775107	NM_015202.5(KATNIP):c.2467A>G (p.Lys823Glu)	KATNIP (K823E)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2506723	NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)	KATNIP (Q930*)	Single nucleotide variant (nonsense)	KATNIP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2177053	NM_015202.5(KATNIP):c.2907C>T (p.Pro969=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 715682	NM_015202.5(KATNIP):c.2928C>T (p.Arg976=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3053031	NM_015202.5(KATNIP):c.3066A>G (p.Pro1022=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition	GLikely benign
Select item 715683	NM_015202.5(KATNIP):c.3492G>A (p.Thr1164=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 709920	NM_015202.5(KATNIP):c.3549A>C (p.Glu1183Asp)	KATNIP (E1183D)	Single nucleotide variant (missense variant)	KATNIP-related condition +2 more	GLikely benign
Select item 715684	NM_015202.5(KATNIP):c.3550C>T (p.Arg1184Trp)	KATNIP (R1184W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 734064	NM_015202.5(KATNIP):c.3561G>A (p.Glu1187=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GBenign
Select item 1920373	NM_015202.5(KATNIP):c.3588C>T (p.Val1196=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GLikely benign
Select item 714696	NM_015202.5(KATNIP):c.3652G>A (p.Ala1218Thr)	KATNIP (A1218T)	Single nucleotide variant (missense variant)	KATNIP-related condition +2 more	GBenign/Likely benign
Select item 3058500	NM_015202.5(KATNIP):c.3777C>T (p.Pro1259=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition	GLikely benign
Select item 1682071	NM_015202.5(KATNIP):c.3778G>A (p.Glu1260Lys)	KATNIP (E1260K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 747373	NM_015202.5(KATNIP):c.3957C>T (p.Pro1319=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2190982	NM_015202.5(KATNIP):c.3976-5G>A	KATNIP, LOC126862323	Single nucleotide variant (intron variant)	KATNIP-related condition +1 more	GLikely benign
Select item 2958884	NM_015202.5(KATNIP):c.4077A>G (p.Gln1359=)	KATNIP, LOC126862323	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GLikely benign
Select item 756098	NM_015202.5(KATNIP):c.4083C>A (p.Ile1361=)	KATNIP, LOC126862323	Single nucleotide variant (synonymous variant)	KATNIP-related condition +1 more	GLikely benign
Select item 709922	NM_015202.5(KATNIP):c.4109A>G (p.Gln1370Arg)	KATNIP, LOC126862323 (Q1370R)	Single nucleotide variant (missense variant)	KATNIP-related condition +2 more	GLikely benign
Select item 1682075	NM_015202.5(KATNIP):c.4276G>A (p.Glu1426Lys)	KATNIP (E1426K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3030561	NM_015202.5(KATNIP):c.4371C>T (p.Thr1457=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition	GLikely benign
Select item 1945341	NM_015202.5(KATNIP):c.4399G>A (p.Asp1467Asn)	KATNIP (D1467N)	Single nucleotide variant (missense variant)	KATNIP-related condition +1 more	GUncertain significance
Select item 3052942	NM_015202.5(KATNIP):c.4407T>C (p.Ser1469=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related condition	GLikely benign
Select item 796669	NM_015202.5(KATNIP):c.4518G>A (p.Ala1506=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 779362	NM_015202.5(KATNIP):c.4668C>T (p.Thr1556=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 733529	NM_015202.5(KATNIP):c.4745T>C (p.Met1582Thr)	KATNIP (M1582T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3043602	NM_015202.5(KATNIP):c.4801+3C>T	KATNIP	Single nucleotide variant (intron variant)	KATNIP-related condition	GLikely benign

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Items: 40