LRRC43[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	ACADS, ANAPC5 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	LOC130009086, LOC130009087 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	LOC130009051, LOC130009052 +330 more	Copy number loss	See cases	GPathogenic
Select item 2248964	NM_001014336.2(IL31):c.376G>A (p.Val126Met)	IL31, LRRC43 (V126M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366827	NM_001014336.2(IL31):c.355G>A (p.Ala119Thr)	IL31, LRRC43 (A119T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308644	NM_001014336.2(IL31):c.319A>G (p.Ile107Val)	IL31, LRRC43 (I107V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244453	NM_001014336.2(IL31):c.297C>A (p.Asp99Glu)	IL31, LRRC43 (D99E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559676	NM_001014336.2(IL31):c.293T>C (p.Leu98Pro)	IL31, LRRC43 (L98P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608419	NM_001014336.2(IL31):c.202T>C (p.Tyr68His)	IL31, LRRC43 (Y68H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301574	NM_001014336.2(IL31):c.101C>G (p.Pro34Arg)	IL31, LRRC43 (P34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532553	NM_001098519.2(LRRC43):c.5A>T (p.Glu2Val)	LRRC43 (E2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620368	NM_001098519.2(LRRC43):c.25T>A (p.Ser9Thr)	LOC130009036, LRRC43 (S9T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211372	NM_001098519.2(LRRC43):c.64C>T (p.Pro22Ser)	LRRC43, LOC130009036 (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516465	NM_001098519.2(LRRC43):c.109A>C (p.Lys37Gln)	LRRC43 (K37Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2305899	NM_001098519.2(LRRC43):c.166C>A (p.Leu56Ile)	LRRC43 (L56I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1331624	NM_001098519.2(LRRC43):c.181C>T (p.Arg61Ter)	LRRC43 (R61*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1331625	NM_001098519.2(LRRC43):c.229G>T (p.Gly77Ter)	LRRC43 (G77*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2301940	NM_001098519.2(LRRC43):c.347C>T (p.Pro116Leu)	LRRC43 (P116L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387432	NM_001098519.2(LRRC43):c.395G>C (p.Arg132Pro)	LRRC43 (R132P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601929	NM_001098519.2(LRRC43):c.685C>G (p.Leu229Val)	LRRC43 (L44V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595004	NM_001098519.2(LRRC43):c.796T>G (p.Tyr266Asp)	LRRC43 (Y81D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289395	NM_001098519.2(LRRC43):c.835G>A (p.Val279Met)	LRRC43 (V279M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208549	NM_001098519.2(LRRC43):c.1072G>A (p.Ala358Thr)	LRRC43 (A358T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381419	NM_001098519.2(LRRC43):c.1156G>A (p.Val386Ile)	LRRC43 (V201I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463370	NM_001098519.2(LRRC43):c.1183A>G (p.Thr395Ala)	LRRC43 (T210A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388818	NM_001098519.2(LRRC43):c.1221G>C (p.Glu407Asp)	LRRC43 (E407D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226601	NM_001098519.2(LRRC43):c.1319G>A (p.Arg440His)	LRRC43 (R255H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274886	NM_001098519.2(LRRC43):c.1426A>G (p.Arg476Gly)	LRRC43 (R291G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612753	NM_001098519.2(LRRC43):c.1475C>A (p.Thr492Asn)	LRRC43 (T307N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470346	NM_001098519.2(LRRC43):c.1765G>A (p.Gly589Ser)	LRRC43 (G589S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269749	NM_001098519.2(LRRC43):c.1771G>T (p.Val591Phe)	LRRC43 (V591F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260460	NM_001098519.2(LRRC43):c.1774C>T (p.Arg592Cys)	LRRC43 (R592C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383771	NM_001098519.2(LRRC43):c.1894C>T (p.Pro632Ser)	LRRC43 (P632S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608744	NM_001098519.2(LRRC43):c.1913A>G (p.Gln638Arg)	LRRC43 (Q453R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540086	NM_001098519.2(LRRC43):c.1947G>T (p.Glu649Asp)	LOC130009038, LRRC43 (E464D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	MTRFR, DDX55 +37 more	Deletion	not provided	GUncertain significance
Select item 1527743	GRCh37/hg19 12q24.31(chr12:121882818-122666131)	BCL7A, CFAP251 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 688463	GRCh37/hg19 12q24.31(chr12:122681331-122730394)x1	B3GNT4, DIABLO +2 more	Copy number loss	not provided	GUncertain significance
Select item 687858	GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1	B3GNT4, BCL7A +8 more	Copy number loss	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 686027	GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3	B3GNT4, CLIP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394726	GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3	B3GNT4, CLIP1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253773	GRCh37/hg19 12q24.31(chr12:122676019-122710016)x1	B3GNT4, DIABLO +1 more	Copy number loss	See cases	GUncertain significance

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Items: 60