37268[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 152421	GRCh38/hg38 5p15.33(chr5:22149-356107)x1	AHRR, CCDC127 +24 more	Copy number loss	See cases	GLikely benign
Select item 151630	GRCh38/hg38 5p15.33(chr5:22149-658446)x1	LOC132089252, LOC132089253 +75 more	Copy number loss	See cases	GLikely benign
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149108	GRCh38/hg38 5p15.33(chr5:22149-946680)x1	AHRR, BRD9 +99 more	Copy number loss	See cases	GUncertain significance
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148971	GRCh38/hg38 5p15.33(chr5:22149-192721)x1	LOC121725197, LOC123493256 +7 more	Copy number loss	See cases	GLikely benign
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144883	GRCh38/hg38 5p15.33(chr5:22149-221160)x1	CCDC127, LOC121725197 +9 more	Copy number loss	See cases	GLikely benign
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 57402	GRCh38/hg38 5p15.33(chr5:138272-710438)x3	AHRR, CCDC127 +88 more	Copy number gain	See cases	GUncertain significance
Select item 145915	GRCh38/hg38 5p15.33(chr5:151622-234045)x3	CCDC127, LOC121725197 +8 more	Copy number gain	See cases	GLikely benign
Select item 2510911	NM_001080478.3(LRRC14B):c.12G>A (p.Met4Ile)	LRRC14B (M4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348040	NM_001080478.3(LRRC14B):c.22C>T (p.Arg8Cys)	LRRC14B (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250617	NM_001080478.3(LRRC14B):c.80A>G (p.Asp27Gly)	LRRC14B (D27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258237	NM_001080478.3(LRRC14B):c.95A>G (p.Asn32Ser)	LRRC14B (N32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301371	NM_001080478.3(LRRC14B):c.151C>T (p.Arg51Cys)	LRRC14B (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120405	NM_001080478.3(LRRC14B):c.217G>A (p.Asp73Asn)	LRRC14B (D73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120406	NM_001080478.3(LRRC14B):c.235C>T (p.Arg79Cys)	LRRC14B (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473029	NM_001080478.3(LRRC14B):c.325G>A (p.Val109Met)	LRRC14B (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291491	NM_001080478.3(LRRC14B):c.432G>C (p.Glu144Asp)	LRRC14B (E144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120407	NM_001080478.3(LRRC14B):c.466G>A (p.Val156Ile)	LRRC14B (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536640	NM_001080478.3(LRRC14B):c.469G>A (p.Glu157Lys)	LRRC14B (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234154	NM_001080478.3(LRRC14B):c.499G>A (p.Gly167Ser)	LRRC14B (G167S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2594480	NM_001080478.3(LRRC14B):c.575G>C (p.Arg192Pro)	LRRC14B (R192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381645	NM_001080478.3(LRRC14B):c.617G>A (p.Arg206His)	LRRC14B (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594684	NM_001080478.3(LRRC14B):c.640C>T (p.Arg214Cys)	LRRC14B (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291495	NM_001080478.3(LRRC14B):c.664G>A (p.Val222Met)	LRRC14B (V222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339419	NM_001080478.3(LRRC14B):c.677C>T (p.Ala226Val)	LRRC14B (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526543	NM_001080478.3(LRRC14B):c.692A>G (p.Gln231Arg)	LRRC14B (Q231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120408	NM_001080478.3(LRRC14B):c.760C>A (p.Pro254Thr)	LRRC14B (P254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120409	NM_001080478.3(LRRC14B):c.869C>G (p.Thr290Arg)	LRRC14B (T290R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593298	NM_001080478.3(LRRC14B):c.877G>A (p.Gly293Arg)	LRRC14B (G293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291492	NM_001080478.3(LRRC14B):c.887C>G (p.Pro296Arg)	LRRC14B (P296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377324	NM_001080478.3(LRRC14B):c.902C>G (p.Pro301Arg)	LRRC14B (P301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410566	NM_001080478.3(LRRC14B):c.914C>T (p.Pro305Leu)	LRRC14B (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120410	NM_001080478.3(LRRC14B):c.956C>T (p.Thr319Met)	LRRC14B (T319M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456721	NM_001080478.3(LRRC14B):c.985C>T (p.His329Tyr)	LRRC14B (H329Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120411	NM_001080478.3(LRRC14B):c.992C>T (p.Ala331Val)	LRRC14B (A331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470745	NM_001080478.3(LRRC14B):c.997C>G (p.Leu333Val)	LRRC14B (L333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346820	NM_001080478.3(LRRC14B):c.1000G>A (p.Glu334Lys)	LRRC14B (E334K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291499	NM_001080478.3(LRRC14B):c.1067G>A (p.Ser356Asn)	LRRC14B (S356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291498	NM_001080478.3(LRRC14B):c.1067G>C (p.Ser356Thr)	LRRC14B (S356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291488	NM_001080478.3(LRRC14B):c.1073C>T (p.Ala358Val)	LRRC14B (A358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516814	NM_001080478.3(LRRC14B):c.1079G>A (p.Arg360Gln)	LRRC14B (R360Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462456	NM_001080478.3(LRRC14B):c.1129G>A (p.Val377Ile)	LRRC14B (V377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156203	NM_001080478.3(LRRC14B):c.1189G>A (p.Gly397Arg)	LRRC14B (G397R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351491	NM_001080478.3(LRRC14B):c.1196C>T (p.Pro399Leu)	LRRC14B (P399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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