ClinVar for Gene (Select 8997) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349385	NM_001388419.1(KALRN):c.4935+21982A>C	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GLikely benign
Select item 3112574	NM_001388419.1(KALRN):c.6815C>T (p.Ala2272Val)	KALRN (A574V +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3060858	NM_001388419.1(KALRN):c.6036+3G>A	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GBenign
Select item 3060857	NM_001388419.1(KALRN):c.5232G>A (p.Val1744=)	KALRN	Single nucleotide variant (synonymous 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 3060559	NM_001388419.1(KALRN):c.906T>C (p.His302=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
Select item 3060484	NM_001388419.1(KALRN):c.5665-5T>C	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GBenign
Select item 3060472	NM_001388419.1(KALRN):c.7962C>T (p.Ser2654=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
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 3059855	NM_001388419.1(KALRN):c.5754C>T (p.Asn1918=)	KALRN	Single nucleotide variant (synonymous 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 3058893	NM_001388419.1(KALRN):c.5340T>C (p.Leu1780=)	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 3058445	NM_001388419.1(KALRN):c.7530C>T (p.Asn2510=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
Select item 3057229	NM_001388419.1(KALRN):c.1341C>T (p.Ser447=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GBenign
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 3056205	NM_001388419.1(KALRN):c.3120G>A (p.Lys1040=)	KALRN	Single nucleotide variant (synonymous variant +2 more)	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 3050174	NM_001388419.1(KALRN):c.5340T>G (p.Leu1780=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	GLikely benign
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 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 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 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 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 3041505	NM_001388419.1(KALRN):c.2064G>A (p.Gln688=)	KALRN	Single nucleotide variant (synonymous variant +1 more)	KALRN-related disorder	GBenign
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 3040545	NM_001388419.1(KALRN):c.1353C>T (p.Asp451=)	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 3037337	NM_001388419.1(KALRN):c.3430-4A>T	KALRN	Single nucleotide variant (intron variant)	KALRN-related disorder	GBenign
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 3035464	NM_001388419.1(KALRN):c.7236G>A (p.Ala2412=)	KALRN	Single nucleotide variant (synonymous variant)	KALRN-related disorder	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 3033496	NM_001388419.1(KALRN):c.1770+43_1770+139del	KALRN	Deletion (splice donor variant)	KALRN-related disorder	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
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 3024845	NM_001388419.1(KALRN):c.5090C>A (p.Pro1697Gln)	KALRN (P1054Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2681344	NM_001388419.1(KALRN):c.2897A>C (p.Glu966Ala)	KALRN (E301A +9 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2654086	NM_001388419.1(KALRN):c.6918T>C (p.Pro2306=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654085	NM_001388419.1(KALRN):c.1125C>T (p.Ser375=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	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 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 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
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	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2396854	NM_001388419.1(KALRN):c.6442G>A (p.Val2148Met)	KALRN (V2146M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378101	NM_001388419.1(KALRN):c.6930C>G (p.Phe2310Leu)	KALRN (F2308L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256878	NM_001388419.1(KALRN):c.1105A>T (p.Asn369Tyr)	KALRN (N367Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250611	NM_001388419.1(KALRN):c.3368T>C (p.Leu1123Ser)	KALRN (L1071S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246068	NM_001388419.1(KALRN):c.2705A>G (p.Lys902Arg)	KALRN (K259R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244113	NM_001388419.1(KALRN):c.5173T>A (p.Leu1725Met)	KALRN (L1082M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242496	NM_001388419.1(KALRN):c.8629G>A (p.Val2877Ile)	KALRN (V1179I +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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 1685340	NM_001388419.1(KALRN):c.7174A>G (p.Ser2392Gly)	KALRN (S1750G +9 more)	Single nucleotide variant (missense variant)	not specified	GBenign
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 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +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 1277522	NM_001388419.1(KALRN):c.1215C>T (p.Phe405=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 1049371	NM_001388419.1(KALRN):c.6267+48A>G	KALRN (I378V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 791948	NM_001388419.1(KALRN):c.6057C>T (p.Tyr2019=)	KALRN	Single nucleotide variant (synonymous 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 788487	NM_001388419.1(KALRN):c.7997-4G>A	KALRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 785061	NM_001388419.1(KALRN):c.5526A>T (p.Pro1842=)	KALRN	Single nucleotide variant (synonymous 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 775901	NM_001388419.1(KALRN):c.7446C>T (p.Cys2482=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 770144	NM_001388419.1(KALRN):c.5792G>T (p.Arg1931Met)	KALRN (R1929M +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 732424	NM_001388419.1(KALRN):c.5182+21760C>T	KALRN, LOC129937406 (R10*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 717185	NM_001388419.1(KALRN):c.6931G>A (p.Glu2311Lys)	KALRN (E612K +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 710423	NM_001388419.1(KALRN):c.8832C>T (p.Ser2944=)	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 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	HHLA2, HIGD1A +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
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	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 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 5458	NC_000003.12:g.124055231T>G	KALRN	Single nucleotide variant	Coronary heart disease, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 100