ClinVar for Gene (Select 55227) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291479	NM_018214.5(LRRC1):c.603T>A (p.Asp201Glu)	LRRC1 (D201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291478	NM_018214.5(LRRC1):c.1349G>A (p.Arg450His)	LRRC1 (R450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291477	NM_018214.5(LRRC1):c.748A>G (p.Ile250Val)	LRRC1 (I250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120385	NM_018214.5(LRRC1):c.854T>C (p.Val285Ala)	LRRC1 (V285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120383	NM_018214.5(LRRC1):c.663C>A (p.Asn221Lys)	LRRC1 (N221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120382	NM_018214.5(LRRC1):c.1534G>A (p.Glu512Lys)	LRRC1 (E512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120381	NM_018214.5(LRRC1):c.1489C>T (p.Arg497Trp)	LRRC1 (R497W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120380	NM_018214.5(LRRC1):c.1433G>A (p.Arg478Gln)	LRRC1 (R478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120379	NM_018214.5(LRRC1):c.1274G>C (p.Cys425Ser)	LRRC1 (C425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120378	NM_018214.5(LRRC1):c.1124T>C (p.Leu375Ser)	LRRC1 (L375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2622515	NM_018214.5(LRRC1):c.866A>G (p.Glu289Gly)	LRRC1 (E289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621849	NM_018214.5(LRRC1):c.299G>T (p.Ser100Ile)	LRRC1 (S100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536114	NM_018214.5(LRRC1):c.963A>C (p.Arg321Ser)	LRRC1 (R321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486277	NM_018214.5(LRRC1):c.793C>G (p.Leu265Val)	LRRC1 (L265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481493	NM_018214.5(LRRC1):c.1046G>A (p.Arg349Gln)	LRRC1 (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461369	NM_018214.5(LRRC1):c.235G>T (p.Ala79Ser)	LRRC1 (A79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382148	NM_018214.5(LRRC1):c.1288C>T (p.Pro430Ser)	LRRC1 (P430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328569	NM_018214.5(LRRC1):c.32A>G (p.Asn11Ser)	LRRC1 (N11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325463	NM_018214.5(LRRC1):c.538G>A (p.Asp180Asn)	LRRC1 (D180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285825	NM_018214.5(LRRC1):c.692G>A (p.Arg231Lys)	LRRC1 (R231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267931	NM_018214.5(LRRC1):c.104C>T (p.Ala35Val)	LRRC1 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262563	NM_018214.5(LRRC1):c.1381G>A (p.Val461Met)	LRRC1 (V461M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257485	NM_018214.5(LRRC1):c.1039C>A (p.Leu347Ile)	LRRC1 (L347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256337	NM_018214.5(LRRC1):c.923T>C (p.Ile308Thr)	LRRC1 (I308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237136	NM_018214.5(LRRC1):c.1464C>G (p.His488Gln)	LRRC1 (H488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229985	NM_018214.5(LRRC1):c.997G>A (p.Gly333Arg)	LRRC1 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229422	NM_018214.5(LRRC1):c.683C>G (p.Ser228Cys)	LRRC1 (S228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226321	NM_018214.5(LRRC1):c.1322A>G (p.Asp441Gly)	LRRC1 (D441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 790576	NM_018214.5(LRRC1):c.47G>T (p.Ser16Ile)	LRRC1 (S16I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768099	NM_018214.5(LRRC1):c.1569T>G (p.Ser523=)	LRRC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 395618	GRCh37/hg19 6p12.1(chr6:53661282-55147137)x3	LRRC1, MLIP +4 more	Copy number gain	See cases	GUncertain significance
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 41