84957[Gene ID] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 3313597	NM_152222.2(RELT):c.22C>T (p.Arg8Trp)	RELT (R8W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3152959	NM_152222.2(RELT):c.23G>A (p.Arg8Gln)	RELT (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642141	NM_152222.2(RELT):c.46-5_46-3del	RELT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2262761	NM_152222.2(RELT):c.52C>T (p.Pro18Ser)	RELT (P18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496008	NM_152222.2(RELT):c.53C>G (p.Pro18Arg)	RELT (P18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470143	NM_152222.2(RELT):c.53C>T (p.Pro18Leu)	RELT (P18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224265	NM_152222.2(RELT):c.79A>G (p.Thr27Ala)	RELT (T27A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275922	NM_152222.2(RELT):c.82A>C (p.Thr28Pro)	RELT (T28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360341	NM_152222.2(RELT):c.115G>C (p.Asp39His)	RELT (D39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577927	NM_152222.2(RELT):c.120+1G>T	RELT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 625370	NM_152222.2(RELT):c.121-2A>G	RELT	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta, type 3C	GPathogenic
Select item 694316	NM_152222.2(RELT):c.164C>T (p.Thr55Ile)	RELT (T55I)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 3C	GPathogenic
Select item 3152958	NM_152222.2(RELT):c.209G>T (p.Arg70Leu)	RELT (R70L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532012	NM_152222.2(RELT):c.232G>A (p.Glu78Lys)	RELT (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573131	NM_152222.2(RELT):c.260A>T (p.Asp87Val)	RELT (D87V)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GLikely pathogenic
Select item 3313598	NM_152222.2(RELT):c.407C>T (p.Ala136Val)	RELT (A136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377336	NM_152222.2(RELT):c.415A>T (p.Ser139Cys)	RELT (S139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618581	NM_152222.2(RELT):c.421G>A (p.Gly141Ser)	RELT (G141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152960	NM_152222.2(RELT):c.440C>T (p.Pro147Leu)	RELT (P147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642142	NM_152222.2(RELT):c.480C>T (p.Ala160=)	RELT	Single nucleotide variant (synonymous variant)	RELT-related disorder +1 more	GLikely benign
Select item 3152961	NM_152222.2(RELT):c.491C>T (p.Ala164Val)	RELT (A148V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208022	NM_152222.2(RELT):c.514T>C (p.Phe172Leu)	RELT (F172L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573118	NM_152222.2(RELT):c.521T>G (p.Leu174Arg)	RELT (L174R)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GLikely pathogenic
Select item 2454853	NM_152222.2(RELT):c.562C>T (p.Arg188Trp)	RELT (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152962	NM_152222.2(RELT):c.563G>A (p.Arg188Gln)	RELT (R188Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037256	NM_152222.2(RELT):c.603C>T (p.Pro201=)	RELT	Single nucleotide variant (synonymous variant)	RELT-related disorder	GBenign
Select item 2478971	NM_152222.2(RELT):c.607C>T (p.Pro203Ser)	RELT (P203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595864	NM_152222.2(RELT):c.635C>G (p.Pro212Arg)	RELT (P212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382917	NM_152222.2(RELT):c.644G>A (p.Arg215Gln)	RELT (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404471	NM_152222.2(RELT):c.676G>C (p.Val226Leu)	RELT (V226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388334	NM_152222.2(RELT):c.716C>T (p.Ala239Val)	RELT (A239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059388	NM_152222.2(RELT):c.767C>T (p.Thr256Met)	RELT (T170M +4 more)	Single nucleotide variant (missense variant)	RELT-related disorder	GBenign
Select item 2520743	NM_152222.2(RELT):c.800C>T (p.Ala267Val)	RELT (A267V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715513	NM_152222.2(RELT):c.801G>A (p.Ala267=)	RELT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2553933	NM_152222.2(RELT):c.805C>T (p.Pro269Ser)	RELT (P269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307026	NM_152222.2(RELT):c.848C>T (p.Thr283Ile)	RELT (T283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337902	NM_152222.2(RELT):c.905A>G (p.Lys302Arg)	RELT (K302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051926	NM_152222.2(RELT):c.942C>T (p.Ala314=)	RELT	Single nucleotide variant (synonymous variant)	RELT-related disorder	GLikely benign
Select item 3024881	NM_152222.2(RELT):c.995C>T (p.Ala332Val)	RELT (A246V +4 more)	Single nucleotide variant (missense variant)	RELT-related disorder +1 more	GBenign/Likely benign
Select item 2349928	NM_152222.2(RELT):c.997G>A (p.Gly333Arg)	RELT (G333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050139	NM_152222.2(RELT):c.1013G>C (p.Arg338Pro)	RELT (R252P +4 more)	Single nucleotide variant (missense variant)	RELT-related disorder	GLikely benign
Select item 3152957	NM_152222.2(RELT):c.1052G>A (p.Arg351His)	RELT (R265H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313599	NM_152222.2(RELT):c.1057G>A (p.Ala353Thr)	RELT (A353T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039748	NM_152222.2(RELT):c.1080A>C (p.Thr360=)	RELT	Single nucleotide variant (synonymous variant)	RELT-related disorder	GBenign
Select item 3041407	NM_152222.2(RELT):c.1087A>G (p.Met363Val)	RELT (M277V +4 more)	Single nucleotide variant (missense variant)	RELT-related disorder	GBenign
Select item 3044723	NM_152222.2(RELT):c.1100T>A (p.Val367Glu)	RELT (V281E +4 more)	Single nucleotide variant (missense variant)	RELT-related disorder	GBenign
Select item 3059063	NM_152222.2(RELT):c.1101G>A (p.Val367=)	RELT	Single nucleotide variant (synonymous variant)	RELT-related disorder	GBenign
Select item 2521248	NM_152222.2(RELT):c.1168C>G (p.Pro390Ala)	RELT (P390A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2462620	NM_152222.2(RELT):c.1168C>A (p.Pro390Thr)	RELT (P390T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 625368	NM_152222.2(RELT):c.1169_1170del (p.Pro390fs)	RELT (P390fs)	Deletion (frameshift variant)	Amelogenesis imperfecta, type 3C	GPathogenic
Select item 2397158	NM_152222.2(RELT):c.1204C>T (p.Arg402Cys)	RELT (R402C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694317	NM_152222.2(RELT):c.1264C>T (p.Arg422Trp)	RELT (R422W)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 3C +1 more	GConflicting classifications of pathogenicity
Select item 625369	NM_152222.2(RELT):c.1265G>C (p.Arg422Pro)	RELT (R422P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 3C	GPathogenic
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 686317	GRCh37/hg19 11q13.4(chr11:72998686-73156844)x3	ARHGEF17, ARHGEF17-AS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 64