LRRC30[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 150598	GRCh38/hg38 18p11.31-11.23(chr18:6299210-7244644)x3	ARHGAP28, ARHGAP28-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 59734	GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3	ARHGAP28, LAMA1 +12 more	Copy number gain	See cases	GBenign
Select item 148553	GRCh38/hg38 18p11.31-11.23(chr18:6894970-7577151)x3	ARHGAP28, LAMA1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 151490	GRCh38/hg38 18p11.31-11.23(chr18:6913063-7354636)x3	ARHGAP28, LAMA1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 154424	GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3	ANKRD12, ARHGAP28 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152481	GRCh38/hg38 18p11.31-11.23(chr18:6947044-8084807)x3	LAMA1, LOC101927188 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148607	GRCh38/hg38 18p11.31-11.23(chr18:6947044-7470216)x3	LAMA1, LOC101927188 +5 more	Copy number gain	See cases	GLikely benign
Select item 144528	GRCh38/hg38 18p11.31-11.23(chr18:6973011-8055877)x3	LAMA1, LOC112543434 +8 more	Copy number gain	See cases	GUncertain significance
Select item 144233	GRCh38/hg38 18p11.31-11.23(chr18:6973011-7595580)x3	LAMA1, LOC112543434 +5 more	Copy number gain	See cases	GUncertain significance
Select item 59753	GRCh38/hg38 18p11.31-11.23(chr18:7115076-7608220)x3	LAMA1, LOC112577592 +3 more	Copy number gain	See cases	GBenign
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 2344821	NM_001105581.3(LRRC30):c.7G>A (p.Ala3Thr)	LRRC30 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120529	NM_001105581.3(LRRC30):c.62C>T (p.Thr21Met)	LRRC30 (T21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558073	NM_001105581.3(LRRC30):c.101T>G (p.Leu34Arg)	LRRC30 (L34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401325	NM_001105581.3(LRRC30):c.118C>G (p.Pro40Ala)	LRRC30 (P40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312063	NM_001105581.3(LRRC30):c.137G>A (p.Arg46Gln)	LRRC30 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343482	NM_001105581.3(LRRC30):c.139G>A (p.Gly47Ser)	LRRC30 (G47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249790	NM_001105581.3(LRRC30):c.151G>A (p.Val51Ile)	LRRC30 (V51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550286	NM_001105581.3(LRRC30):c.170C>T (p.Thr57Met)	LRRC30 (T57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495731	NM_001105581.3(LRRC30):c.178A>G (p.Met60Val)	LRRC30 (M60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120525	NM_001105581.3(LRRC30):c.280A>G (p.Thr94Ala)	LRRC30 (T94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283288	NM_001105581.3(LRRC30):c.283C>T (p.Arg95Trp)	LRRC30 (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120527	NM_001105581.3(LRRC30):c.292G>A (p.Val98Ile)	LRRC30 (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325869	NM_001105581.3(LRRC30):c.305G>C (p.Cys102Ser)	LRRC30 (C102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601024	NM_001105581.3(LRRC30):c.307G>C (p.Gly103Arg)	LRRC30 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606036	NM_001105581.3(LRRC30):c.383G>T (p.Cys128Phe)	LRRC30 (C128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594481	NM_001105581.3(LRRC30):c.422A>G (p.Lys141Arg)	LRRC30 (K141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291558	NM_001105581.3(LRRC30):c.434T>C (p.Leu145Pro)	LRRC30 (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120528	NM_001105581.3(LRRC30):c.526G>T (p.Ala176Ser)	LRRC30 (A176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291559	NM_001105581.3(LRRC30):c.533T>C (p.Ile178Thr)	LRRC30 (I178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507755	NM_001105581.3(LRRC30):c.544G>C (p.Val182Leu)	LRRC30 (V182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291555	NM_001105581.3(LRRC30):c.554T>C (p.Leu185Pro)	LRRC30 (L185P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523218	NM_001105581.3(LRRC30):c.611G>A (p.Ser204Asn)	LRRC30 (S204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207046	NM_001105581.3(LRRC30):c.618G>C (p.Gln206His)	LRRC30 (Q206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333992	NM_001105581.3(LRRC30):c.661A>T (p.Ile221Phe)	LRRC30 (I221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291557	NM_001105581.3(LRRC30):c.726T>G (p.Asn242Lys)	LRRC30 (N242K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648554	NM_001105581.3(LRRC30):c.753C>G (p.Leu251=)	LRRC30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217792	NM_001105581.3(LRRC30):c.791C>T (p.Pro264Leu)	LRRC30 (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120530	NM_001105581.3(LRRC30):c.805C>T (p.Leu269Phe)	LRRC30 (L269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285983	NM_001105581.3(LRRC30):c.823C>G (p.Pro275Ala)	LRRC30 (P275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288226	NM_001105581.3(LRRC30):c.842C>T (p.Pro281Leu)	LRRC30 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378309	NM_001105581.3(LRRC30):c.860G>T (p.Gly287Val)	LRRC30 (G287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278103	NM_001105581.3(LRRC30):c.869T>C (p.Met290Thr)	LRRC30 (M290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120531	NM_001105581.3(LRRC30):c.899A>T (p.His300Leu)	LRRC30 (H300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063553	GRCh37/hg19 18p11.31-11.23(chr18:6737164-7388708)x3	ARHGAP28, LAMA1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063539	GRCh37/hg19 18p11.31-11.23(chr18:6939845-8092116)x3	LAMA1, LRRC30 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684863	GRCh37/hg19 18p11.31-11.23(chr18:5689219-7964689)x3	ARHGAP28, L3MBTL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic

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