ClinVar for Gene (Select 389257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3291497	NM_001080478.3(LRRC14B):c.1399C>G (p.Arg467Gly)	LRRC14B (R467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291496	NM_001080478.3(LRRC14B):c.1298G>T (p.Gly433Val)	LRRC14B (G433V)	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 3291494	NM_001080478.3(LRRC14B):c.1324G>T (p.Ala442Ser)	LRRC14B (A442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291493	NM_001080478.3(LRRC14B):c.1242G>T (p.Glu414Asp)	LRRC14B (E414D)	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 3291491	NM_001080478.3(LRRC14B):c.432G>C (p.Glu144Asp)	LRRC14B (E144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291490	NM_001080478.3(LRRC14B):c.1375C>T (p.Arg459Cys)	LRRC14B (R459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291489	NM_001080478.3(LRRC14B):c.1354G>A (p.Asp452Asn)	LRRC14B (D452N)	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 3291487	NM_001080478.3(LRRC14B):c.1471C>A (p.Leu491Ile)	LRRC14B (L491I)	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 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
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 3120410	NM_001080478.3(LRRC14B):c.956C>T (p.Thr319Met)	LRRC14B (T319M)	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 3120408	NM_001080478.3(LRRC14B):c.760C>A (p.Pro254Thr)	LRRC14B (P254T)	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 3120406	NM_001080478.3(LRRC14B):c.235C>T (p.Arg79Cys)	LRRC14B (R79C)	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 3120404	NM_001080478.3(LRRC14B):c.1342C>G (p.Gln448Glu)	LRRC14B (Q448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062863	GRCh37/hg19 5p15.33(chr5:113576-676873)x3	AHRR, CCDC127 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
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 2594480	NM_001080478.3(LRRC14B):c.575G>C (p.Arg192Pro)	LRRC14B (R192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2588849	NM_001080478.3(LRRC14B):c.1269C>A (p.Phe423Leu)	LRRC14B (F423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2536640	NM_001080478.3(LRRC14B):c.469G>A (p.Glu157Lys)	LRRC14B (E157K)	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 2516814	NM_001080478.3(LRRC14B):c.1079G>A (p.Arg360Gln)	LRRC14B (R360Q)	Single nucleotide variant (missense variant)	not specified	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 2473029	NM_001080478.3(LRRC14B):c.325G>A (p.Val109Met)	LRRC14B (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471130	NM_001080478.3(LRRC14B):c.1249G>A (p.Glu417Lys)	LRRC14B (E417K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2462456	NM_001080478.3(LRRC14B):c.1129G>A (p.Val377Ile)	LRRC14B (V377I)	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 2410566	NM_001080478.3(LRRC14B):c.914C>T (p.Pro305Leu)	LRRC14B (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396659	NM_001080478.3(LRRC14B):c.1220G>A (p.Arg407His)	LRRC14B (R407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382629	NM_001080478.3(LRRC14B):c.1492G>A (p.Ala498Thr)	LRRC14B (A498T)	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 2377324	NM_001080478.3(LRRC14B):c.902C>G (p.Pro301Arg)	LRRC14B (P301R)	Single nucleotide variant (missense variant)	not specified	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
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 2346820	NM_001080478.3(LRRC14B):c.1000G>A (p.Glu334Lys)	LRRC14B (E334K)	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 2301371	NM_001080478.3(LRRC14B):c.151C>T (p.Arg51Cys)	LRRC14B (R51C)	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 2250617	NM_001080478.3(LRRC14B):c.80A>G (p.Asp27Gly)	LRRC14B (D27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808928	GRCh37/hg19 5p15.33(chr5:150265-668842)x3	AHRR, CCDC127 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1808494	GRCh37/hg19 5p15.33(chr5:113577-380112)x1	AHRR, CCDC127 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808300	GRCh37/hg19 5p15.33(chr5:113577-316451)x3	AHRR, CCDC127 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808129	GRCh37/hg19 5p15.33(chr5:113577-424937)x3	AHRR, CCDC127 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1711872	GRCh37/hg19 5p15.33(chr5:113576-2027194)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	EXOC3, AHRR +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1341272	GRCh37/hg19 5p15.33(chr5:194236-306683)x1	AHRR, CCDC127 +3 more	Copy number loss	not provided	GLikely benign
Select item 1341183	GRCh37/hg19 5p15.33(chr5:150264-362735)x3	AHRR, CCDC127 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340680	GRCh37/hg19 5p15.33(chr5:113577-2276310)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1180547	GRCh37/hg19 5p15.33(chr5:13200-4012072)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979673	GRCh37/hg19 5p15.33(chr5:113576-1286005)x1	AHRR, BRD9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 979670	GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814656	GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	ADAMTS16, AHRR +28 more	Copy number loss	not provided	GPathogenic
Select item 814655	GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 814651	GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 814650	GRCh37/hg19 5p15.33(chr5:113576-2485820)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685095	GRCh37/hg19 5p15.33(chr5:136735-238729)x3	CCDC127, LRRC14B +2 more	Copy number gain	not provided	GUncertain significance
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 624532	GRCh37/hg19 5p15.33(chr5:52186-4163906)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 563028	GRCh37/hg19 5p15.33(chr5:137017-362735)x3	PDCD6, AHRR +4 more	Copy number gain	not provided	GLikely benign
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic

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