"PreventionGenetics, part of Exact Sciences"[submitter] AND "KALRN"[ge - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5458	NC_000003.12:g.124055231T>G	KALRN	Single nucleotide variant	KALRN-related disorder	GBenign
Select item 3060740	NM_001388419.1(KALRN):c.132G>A (p.Lys44=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3049612	NM_001388419.1(KALRN):c.822T>C (p.Ala274=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 3060559	NM_001388419.1(KALRN):c.906T>C (p.His302=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 1277522	NM_001388419.1(KALRN):c.1215C>T (p.Phe405=)	KALRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3057229	NM_001388419.1(KALRN):c.1341C>T (p.Ser447=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3040545	NM_001388419.1(KALRN):c.1353C>T (p.Asp451=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 3033496	NM_001388419.1(KALRN):c.1770+43_1770+139del	KALRN	Deletion (splice donor variant)	KALRN-related disorder	GLikely benign
Select item 3056443	NM_001388419.1(KALRN):c.2049G>A (p.Lys683=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GBenign
Select item 3041505	NM_001388419.1(KALRN):c.2064G>A (p.Gln688=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GBenign
Select item 3043751	NM_001388419.1(KALRN):c.2343C>T (p.Ile781=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3042542	NM_001388419.1(KALRN):c.2964C>T (p.Leu988=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3036248	NM_001388419.1(KALRN):c.2967C>T (p.His989=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3056205	NM_001388419.1(KALRN):c.3120G>A (p.Lys1040=)	KALRN	Single nucleotide variant (synonymous variant +2 more)	KALRN-related disorder	GBenign
Select item 3037337	NM_001388419.1(KALRN):c.3430-4A>T	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GBenign
Select item 3052557	NM_001388419.1(KALRN):c.3804C>T (p.Asp1268=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3060446	NM_001388419.1(KALRN):c.4104A>T (p.Ala1368=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GBenign
Select item 3048688	NM_001388419.1(KALRN):c.4464G>A (p.Pro1488=)	KALRN, LOC126806795	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3041729	NM_001388419.1(KALRN):c.4936C>T (p.Leu1646Phe)	KALRN (L1003F +2 more)	Single nucleotide variant (missense variant)	KALRN-related disorder	GLikely benign
Select item 2634701	NM_001388419.1(KALRN):c.5047G>A (p.Glu1683Lys)	KALRN (E1040K +2 more)	Single nucleotide variant (missense variant)	KALRN-related disorder	GUncertain significance
Select item 3046897	NM_001388419.1(KALRN):c.5075C>A (p.Thr1692Asn)	KALRN (T1049N +2 more)	Single nucleotide variant (missense variant)	KALRN-related disorder	GLikely benign
Select item 3060857	NM_001388419.1(KALRN):c.5232G>A (p.Val1744=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3058893	NM_001388419.1(KALRN):c.5340T>C (p.Leu1780=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3050174	NM_001388419.1(KALRN):c.5340T>G (p.Leu1780=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 3038230	NM_001388419.1(KALRN):c.5496G>A (p.Pro1832=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3038115	NM_001388419.1(KALRN):c.5596G>A (p.Ala1866Thr)	KALRN (A1224T +5 more)	Single nucleotide variant (missense variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3041023	NM_001388419.1(KALRN):c.5661G>A (p.Lys1887=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GLikely benign
Select item 3060484	NM_001388419.1(KALRN):c.5665-5T>C	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GBenign
Select item 3059855	NM_001388419.1(KALRN):c.5754C>T (p.Asn1918=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3060858	NM_001388419.1(KALRN):c.6036+3G>A	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GBenign
Select item 3059744	NM_001388419.1(KALRN):c.6264T>C (p.Ile2088=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GBenign
Select item 717185	NM_001388419.1(KALRN):c.6931G>A (p.Glu2311Lys)	KALRN (E612K +8 more)	Single nucleotide variant (missense variant)	KALRN-related disorder +1 more	GLikely benign
Select item 3034569	NM_001388419.1(KALRN):c.7056C>T (p.Ala2352=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 3035464	NM_001388419.1(KALRN):c.7236G>A (p.Ala2412=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 775901	NM_001388419.1(KALRN):c.7446C>T (p.Cys2482=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder +1 more	GBenign
Select item 3058445	NM_001388419.1(KALRN):c.7530C>T (p.Asn2510=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 3060472	NM_001388419.1(KALRN):c.7962C>T (p.Ser2654=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3058862	NM_001388419.1(KALRN):c.7995T>C (p.Tyr2665=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 788487	NM_001388419.1(KALRN):c.7997-4G>A	KALRN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3033114	NM_001388419.1(KALRN):c.8918A>G (p.Asn2973Ser)	KALRN (N1275S +2 more)	Single nucleotide variant (missense variant)	KALRN-related disorder	GBenign

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Items: 40