LRRC37B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 2647655	NC_000017.11:g.32007642C>T	LOC130060672, LRRC37B +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2647656	NM_001321350.2(LRRC37B):c.1-281T>C	LRRC37B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3120645	NM_001321350.2(LRRC37B):c.1-234C>T	LRRC37B (R5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597992	NM_001321350.2(LRRC37B):c.1-216C>G	LRRC37B (P11A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291613	NM_001321350.2(LRRC37B):c.1-156G>T	LRRC37B (V31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120658	NM_001321350.2(LRRC37B):c.1-148C>A	LRRC37B (D33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380983	NM_001321350.2(LRRC37B):c.1-146C>T	LRRC37B (P34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388463	NM_001321350.2(LRRC37B):c.1-89C>T	LRRC37B (S53F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555731	NM_001321350.2(LRRC37B):c.1-74A>C	LRRC37B (E58A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391987	NM_001321350.2(LRRC37B):c.1-62C>T	LRRC37B (A62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474968	NM_001321350.2(LRRC37B):c.1-54C>T	LRRC37B (P65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599456	NM_001321350.2(LRRC37B):c.1-41C>T	LRRC37B (P69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120651	NM_001321350.2(LRRC37B):c.1-17C>A	LRRC37B (P77H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211113	NM_001321350.2(LRRC37B):c.1-12G>C	LRRC37B (A79P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510529	NM_001321350.2(LRRC37B):c.70G>A (p.Glu24Lys)	LRRC37B (E24K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120653	NM_001321350.2(LRRC37B):c.101C>A (p.Ala34Asp)	LRRC37B (A34D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291612	NM_001321350.2(LRRC37B):c.142A>G (p.Arg48Gly)	LRRC37B (R48G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553946	NM_001321350.2(LRRC37B):c.164T>A (p.Leu55His)	LRRC37B (L137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556248	NM_001321350.2(LRRC37B):c.193G>A (p.Val65Ile)	LRRC37B (V147I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120654	NM_001321350.2(LRRC37B):c.206G>A (p.Arg69His)	LRRC37B (R69H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120655	NM_001321350.2(LRRC37B):c.229G>C (p.Asp77His)	LRRC37B (D159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291610	NM_001321350.2(LRRC37B):c.278T>C (p.Leu93Pro)	LRRC37B (L93P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392999	NM_001321350.2(LRRC37B):c.337G>T (p.Asp113Tyr)	LRRC37B (D195Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547125	NM_001321350.2(LRRC37B):c.340C>G (p.Leu114Val)	LRRC37B (L114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120656	NM_001321350.2(LRRC37B):c.404G>A (p.Arg135His)	LRRC37B (R217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291614	NM_001321350.2(LRRC37B):c.435G>T (p.Leu145Phe)	LRRC37B (L227F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551421	NM_001321350.2(LRRC37B):c.462C>G (p.Ser154Arg)	LRRC37B (S236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120657	NM_001321350.2(LRRC37B):c.487G>T (p.Ala163Ser)	LRRC37B (A245S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312542	NM_001321350.2(LRRC37B):c.518T>G (p.Val173Gly)	LRRC37B (V255G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486943	NM_001321350.2(LRRC37B):c.652C>A (p.Gln218Lys)	LRRC37B (Q300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463452	NM_001321350.2(LRRC37B):c.758A>G (p.His253Arg)	LRRC37B (H253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455643	NM_001321350.2(LRRC37B):c.773A>G (p.Lys258Arg)	LRRC37B (K340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294365	NM_001321350.2(LRRC37B):c.796G>C (p.Val266Leu)	LRRC37B (V266L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120641	NM_001321350.2(LRRC37B):c.827A>G (p.Asn276Ser)	LRRC37B (N358S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554575	NM_001321350.2(LRRC37B):c.859G>T (p.Ala287Ser)	LRRC37B (A287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120642	NM_001321350.2(LRRC37B):c.881A>G (p.Glu294Gly)	LRRC37B (E376G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391018	NM_001321350.2(LRRC37B):c.889C>G (p.Pro297Ala)	LRRC37B (P297A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375440	NM_001321350.2(LRRC37B):c.914C>T (p.Thr305Ile)	LRRC37B (T305I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400293	NM_001321350.2(LRRC37B):c.917A>C (p.Asp306Ala)	LRRC37B (D388A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609600	NM_001321350.2(LRRC37B):c.934C>T (p.Pro312Ser)	LRRC37B (P312S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262213	NM_001321350.2(LRRC37B):c.1043C>T (p.Thr348Ile)	LRRC37B (T430I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120644	NM_001321350.2(LRRC37B):c.1075G>A (p.Glu359Lys)	LRRC37B (E359K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320391	NM_001321350.2(LRRC37B):c.1081T>G (p.Ser361Ala)	LRRC37B (S361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458956	NM_001321350.2(LRRC37B):c.1094C>T (p.Pro365Leu)	LRRC37B (P447L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471531	NM_001321350.2(LRRC37B):c.1100C>T (p.Pro367Leu)	LRRC37B (P449L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378112	NM_001321350.2(LRRC37B):c.1129A>G (p.Thr377Ala)	LRRC37B (T377A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291609	NM_001321350.2(LRRC37B):c.1136T>C (p.Ile379Thr)	LRRC37B (I461T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455855	NM_001321350.2(LRRC37B):c.1202G>A (p.Arg401Gln)	LRRC37B (R401Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592488	NM_001321350.2(LRRC37B):c.1270G>C (p.Glu424Gln)	LRRC37B (E506Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605457	NM_001321350.2(LRRC37B):c.1382G>A (p.Arg461His)	LRRC37B (R461H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3291617	NM_001321350.2(LRRC37B):c.1387G>C (p.Val463Leu)	LRRC37B (V463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291618	NM_001321350.2(LRRC37B):c.1393G>A (p.Val465Met)	LRRC37B (V465M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403455	NM_001321350.2(LRRC37B):c.1498G>A (p.Glu500Lys)	LRRC37B (E582K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557265	NM_001321350.2(LRRC37B):c.1523A>G (p.Tyr508Cys)	LRRC37B (Y590C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120648	NM_001321350.2(LRRC37B):c.1541A>G (p.Lys514Arg)	LRRC37B (K514R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120649	NM_001321350.2(LRRC37B):c.1586C>T (p.Ser529Phe)	LRRC37B (S529F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391986	NM_001321350.2(LRRC37B):c.1597A>G (p.Ile533Val)	LRRC37B (I615V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488266	NM_001321350.2(LRRC37B):c.1601G>A (p.Arg534Gln)	LRRC37B (R616Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647657	NM_001321350.2(LRRC37B):c.1737C>G (p.Leu579=)	LRRC37B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373216	NM_001321350.2(LRRC37B):c.1759G>A (p.Val587Ile)	LRRC37B (V587I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291611	NM_001321350.2(LRRC37B):c.1762G>A (p.Glu588Lys)	LRRC37B (E670K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291615	NM_001321350.2(LRRC37B):c.1846A>T (p.Ile616Phe)	LRRC37B (I616F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376090	NM_001321350.2(LRRC37B):c.1942A>C (p.Lys648Gln)	LRRC37B (K648Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120650	NM_001321350.2(LRRC37B):c.1987A>G (p.Ile663Val)	LRRC37B (I663V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488239	NM_001321350.2(LRRC37B):c.2030C>T (p.Ala677Val)	LRRC37B (A677V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410446	NM_001321350.2(LRRC37B):c.2032T>C (p.Phe678Leu)	LRRC37B (F678L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490955	NM_001321350.2(LRRC37B):c.2095G>A (p.Ala699Thr)	LRRC37B (A781T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270465	NM_001321350.2(LRRC37B):c.2124G>C (p.Leu708Phe)	LRRC37B (L790F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256712	NM_001321350.2(LRRC37B):c.2174G>A (p.Arg725Gln)	LRRC37B (R725Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391988	NM_001321350.2(LRRC37B):c.2250A>C (p.Glu750Asp)	LRRC37B (E750D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317978	NM_001321350.2(LRRC37B):c.2536G>A (p.Val846Met)	LRRC37B (V928M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 929369	GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1	COPRS, EVI2A +8 more	Copy number loss	See cases	GPathogenic
Select item 815926	GRCh37/hg19 17q11.2(chr17:30306459-30537745)x3	SUZ12, RHOT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815924	GRCh37/hg19 17q11.2(chr17:29373189-30412788)x1	NF1, SUZ12 +8 more	Copy number loss	not provided	GPathogenic
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic
Select item 687019	GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685655	GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564426	GRCh37/hg19 17q11.2(chr17:29003358-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 564425	GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response

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