KALRN[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ALDH1L1-AS1, ALDH1L1-AS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 5458	NC_000003.12:g.124055231T>G	KALRN	Single nucleotide variant	KALRN-related condition	GBenign
Select item 3060740	NM_001388419.1(KALRN):c.132G>A (p.Lys44=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 3049612	NM_001388419.1(KALRN):c.822T>C (p.Ala274=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GLikely benign
Select item 2654084	NM_001388419.1(KALRN):c.894C>T (p.His298=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060559	NM_001388419.1(KALRN):c.906T>C (p.His302=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 2256878	NM_001388419.1(KALRN):c.1105A>T (p.Asn369Tyr)	KALRN (N367Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654085	NM_001388419.1(KALRN):c.1125C>T (p.Ser375=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 condition	GBenign
Select item 3040545	NM_001388419.1(KALRN):c.1353C>T (p.Asp451=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GLikely benign
Select item 1685329	NM_001388419.1(KALRN):c.1624G>A (p.Val542Ile)	KALRN (V540I +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3033496	NM_001388419.1(KALRN):c.1770+43_1770+139del	KALRN	Deletion (splice donor variant)	KALRN-related condition	GLikely benign
Select item 3056443	NM_001388419.1(KALRN):c.2049G>A (p.Lys683=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GBenign
Select item 3041505	NM_001388419.1(KALRN):c.2064G>A (p.Gln688=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GBenign
Select item 983063	NM_001388419.1(KALRN):c.2177C>T (p.Ser726Leu)	KALRN (S711L +4 more)	Single nucleotide variant (missense variant +1 more)	Coronary heart disease, susceptibility to, 5	GUncertain significance
Select item 3043751	NM_001388419.1(KALRN):c.2343C>T (p.Ile781=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GLikely benign
Select item 2246068	NM_001388419.1(KALRN):c.2705A>G (p.Lys902Arg)	KALRN (K259R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042542	NM_001388419.1(KALRN):c.2964C>T (p.Leu988=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GLikely benign
Select item 3036248	NM_001388419.1(KALRN):c.2967C>T (p.His989=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GLikely benign
Select item 3056205	NM_001388419.1(KALRN):c.3120G>A (p.Lys1040=)	KALRN	Single nucleotide variant (synonymous variant +2 more)	KALRN-related condition	GBenign
Select item 2250611	NM_001388419.1(KALRN):c.3368T>C (p.Leu1123Ser)	KALRN (L1071S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037337	NM_001388419.1(KALRN):c.3430-4A>T	KALRN	Single nucleotide variant (intron variant)	KALRN-related condition	GBenign
Select item 712691	NM_001388419.1(KALRN):c.3650C>A (p.Thr1217Lys)	KALRN (T1215K +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2234201	NM_001388419.1(KALRN):c.3789G>C (p.Glu1263Asp)	KALRN (E1248D +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052557	NM_001388419.1(KALRN):c.3804C>T (p.Asp1268=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GLikely benign
Select item 3060446	NM_001388419.1(KALRN):c.4104A>T (p.Ala1368=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GBenign
Select item 3027015	NM_001388419.1(KALRN):c.4355C>G (p.Pro1452Arg)	KALRN (P1400R +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3048688	NM_001388419.1(KALRN):c.4464G>A (p.Pro1488=)	KALRN, LOC126806795	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	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 condition	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 condition	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 condition	GLikely benign
Select item 3024845	NM_001388419.1(KALRN):c.5090C>A (p.Pro1697Gln)	KALRN (P1054Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1173045	NM_001388419.1(KALRN):c.5102G>T (p.Gly1701Val)	KALRN (G1058V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049836	NM_001388419.1(KALRN):c.5149G>A (p.Val1717Met)	KALRN (V1074M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244113	NM_001388419.1(KALRN):c.5173T>A (p.Leu1725Met)	KALRN (L1082M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732424	NM_001388419.1(KALRN):c.5182+21760C>T	KALRN, LOC129937406 (R10*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3060857	NM_001388419.1(KALRN):c.5232G>A (p.Val1744=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 3058893	NM_001388419.1(KALRN):c.5340T>C (p.Leu1780=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 3050174	NM_001388419.1(KALRN):c.5340T>G (p.Leu1780=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GLikely benign
Select item 3038230	NM_001388419.1(KALRN):c.5496G>A (p.Pro1832=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 785061	NM_001388419.1(KALRN):c.5526A>T (p.Pro1842=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	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 condition	GLikely benign
Select item 3041023	NM_001388419.1(KALRN):c.5661G>A (p.Lys1887=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GLikely benign
Select item 3060484	NM_001388419.1(KALRN):c.5665-5T>C	KALRN	Single nucleotide variant (intron variant)	KALRN-related condition	GBenign
Select item 3059855	NM_001388419.1(KALRN):c.5754C>T (p.Asn1918=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 770144	NM_001388419.1(KALRN):c.5792G>T (p.Arg1931Met)	KALRN (R1929M +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791947	NM_001388419.1(KALRN):c.6036C>T (p.His2012=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060858	NM_001388419.1(KALRN):c.6036+3G>A	KALRN	Single nucleotide variant (intron variant)	KALRN-related condition	GBenign
Select item 791948	NM_001388419.1(KALRN):c.6057C>T (p.Tyr2019=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745290	NM_001388419.1(KALRN):c.6083G>A (p.Arg2028His)	KALRN (R2027H +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774425	NM_001388419.1(KALRN):c.6085T>G (p.Ser2029Ala)	KALRN (S298A +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784020	NM_001388419.1(KALRN):c.6096C>T (p.Ile2032=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708657	NM_001388419.1(KALRN):c.6111C>T (p.Asp2037=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3059744	NM_001388419.1(KALRN):c.6264T>C (p.Ile2088=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related condition	GBenign
Select item 1049371	NM_001388419.1(KALRN):c.6267+48A>G	KALRN (I378V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2396854	NM_001388419.1(KALRN):c.6442G>A (p.Val2148Met)	KALRN (V2146M +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049982	NM_001388419.1(KALRN):c.6689G>A (p.Arg2230Gln)	KALRN (R1588Q +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654086	NM_001388419.1(KALRN):c.6918T>C (p.Pro2306=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2378101	NM_001388419.1(KALRN):c.6930C>G (p.Phe2310Leu)	KALRN (F2308L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717185	NM_001388419.1(KALRN):c.6931G>A (p.Glu2311Lys)	KALRN (E612K +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3034569	NM_001388419.1(KALRN):c.7056C>T (p.Ala2352=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GLikely benign
Select item 1685340	NM_001388419.1(KALRN):c.7174A>G (p.Ser2392Gly)	KALRN (S1750G +9 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3035464	NM_001388419.1(KALRN):c.7236G>A (p.Ala2412=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GLikely benign
Select item 775901	NM_001388419.1(KALRN):c.7446C>T (p.Cys2482=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition +1 more	GBenign
Select item 3058445	NM_001388419.1(KALRN):c.7530C>T (p.Asn2510=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GLikely benign
Select item 3060472	NM_001388419.1(KALRN):c.7962C>T (p.Ser2654=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	GBenign
Select item 1174987	NM_001388419.1(KALRN):c.7963G>A (p.Glu2655Lys)	KALRN (E2655K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058862	NM_001388419.1(KALRN):c.7995T>C (p.Tyr2665=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related condition	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 2242496	NM_001388419.1(KALRN):c.8629G>A (p.Val2877Ile)	KALRN (V1179I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759386	NM_001388419.1(KALRN):c.8643G>A (p.Leu2881=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748441	NM_001388419.1(KALRN):c.8652C>T (p.Ser2884=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710423	NM_001388419.1(KALRN):c.8832C>T (p.Ser2944=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3033114	NM_001388419.1(KALRN):c.8918A>G (p.Asn2973Ser)	KALRN (N1275S +2 more)	Single nucleotide variant (missense variant)	KALRN-related condition	GBenign
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340702	GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1	CCDC14, KALRN +2 more	Copy number loss	not provided	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980054	GRCh37/hg19 3q21.2(chr3:123996029-124179656)x1	KALRN	Copy number loss	not provided	GUncertain significance
Select item 980053	GRCh37/hg19 3q21.1-21.2(chr3:123442360-123837654)x3	KALRN, ROPN1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 97