ClinVar for Gene (Select 23506) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133987	NM_001393499.1(BICRAL):c.871T>G (p.Leu291Val)	BICRAL (L291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133986	NM_001393499.1(BICRAL):c.745G>A (p.Val249Met)	BICRAL (V249M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133985	NM_001393499.1(BICRAL):c.721A>G (p.Ser241Gly)	BICRAL (S241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133984	NM_001393499.1(BICRAL):c.709A>G (p.Ile237Val)	BICRAL (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133983	NM_001393499.1(BICRAL):c.682A>G (p.Ile228Val)	BICRAL (I228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133982	NM_001393499.1(BICRAL):c.631G>C (p.Gly211Arg)	BICRAL (G211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133981	NM_001393499.1(BICRAL):c.557A>T (p.His186Leu)	BICRAL (H186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133980	NM_001393499.1(BICRAL):c.3035A>G (p.Lys1012Arg)	BICRAL (K1012R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133979	NM_001393499.1(BICRAL):c.3013A>G (p.Lys1005Glu)	BICRAL (K1005E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133978	NM_001393499.1(BICRAL):c.2995C>T (p.Pro999Ser)	BICRAL (P999S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133977	NM_001393499.1(BICRAL):c.2986G>A (p.Glu996Lys)	BICRAL (E996K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133976	NM_001393499.1(BICRAL):c.2887C>T (p.His963Tyr)	BICRAL (H963Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133975	NM_001393499.1(BICRAL):c.2822G>A (p.Arg941Gln)	BICRAL (R941Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133974	NM_001393499.1(BICRAL):c.2821C>T (p.Arg941Trp)	BICRAL (R941W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133973	NM_001393499.1(BICRAL):c.280C>A (p.Leu94Ile)	BICRAL (L94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133971	NM_001393499.1(BICRAL):c.2785A>G (p.Lys929Glu)	BICRAL (K929E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133970	NM_001393499.1(BICRAL):c.2665G>A (p.Ala889Thr)	BICRAL (A889T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133969	NM_001393499.1(BICRAL):c.2521C>T (p.Arg841Trp)	BICRAL (R841W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133968	NM_001393499.1(BICRAL):c.2423G>A (p.Arg808Gln)	BICRAL (R808Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133967	NM_001393499.1(BICRAL):c.2311C>T (p.Leu771Phe)	BICRAL (L771F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133966	NM_001393499.1(BICRAL):c.2294A>G (p.Lys765Arg)	BICRAL (K765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133965	NM_001393499.1(BICRAL):c.2098A>G (p.Lys700Glu)	BICRAL (K700E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133964	NM_001393499.1(BICRAL):c.2062G>A (p.Gly688Arg)	BICRAL (G688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133963	NM_001393499.1(BICRAL):c.2035C>T (p.Pro679Ser)	BICRAL (P679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133962	NM_001393499.1(BICRAL):c.2015T>C (p.Val672Ala)	BICRAL (V672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133961	NM_001393499.1(BICRAL):c.1963A>G (p.Lys655Glu)	BICRAL (K655E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133960	NM_001393499.1(BICRAL):c.1637C>G (p.Ala546Gly)	BICRAL (A546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133959	NM_001393499.1(BICRAL):c.161A>G (p.Asn54Ser)	BICRAL (N54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133958	NM_001393499.1(BICRAL):c.1576G>A (p.Ala526Thr)	BICRAL (A526T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133957	NM_001393499.1(BICRAL):c.1552G>A (p.Val518Ile)	BICRAL (V518I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133956	NM_001393499.1(BICRAL):c.1534T>C (p.Ser512Pro)	BICRAL (S512P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133955	NM_001393499.1(BICRAL):c.1520C>A (p.Thr507Asn)	BICRAL (T507N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133954	NM_001393499.1(BICRAL):c.1436C>G (p.Ala479Gly)	BICRAL (A479G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133953	NM_001393499.1(BICRAL):c.1382C>T (p.Pro461Leu)	BICRAL (P461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133952	NM_001393499.1(BICRAL):c.131A>G (p.Asn44Ser)	BICRAL (N44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133950	NM_001393499.1(BICRAL):c.1285C>G (p.Pro429Ala)	BICRAL (P429A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133949	NM_001393499.1(BICRAL):c.1249G>A (p.Val417Ile)	BICRAL (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133948	NM_001393499.1(BICRAL):c.1186G>A (p.Ala396Thr)	BICRAL (A396T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133947	NM_001393499.1(BICRAL):c.1174G>A (p.Gly392Ser)	BICRAL (G392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133946	NM_001393499.1(BICRAL):c.1087A>G (p.Ile363Val)	BICRAL (I363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133945	NM_001393499.1(BICRAL):c.1081G>A (p.Val361Met)	BICRAL (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133944	NM_001393499.1(BICRAL):c.1024A>T (p.Ile342Phe)	BICRAL (I342F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133943	NM_001393499.1(BICRAL):c.1022G>C (p.Gly341Ala)	BICRAL (G341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621575	NM_001393499.1(BICRAL):c.2383G>A (p.Asp795Asn)	BICRAL (D795N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609022	NM_001393499.1(BICRAL):c.390A>G (p.Ile130Met)	BICRAL (I130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608918	NM_001393499.1(BICRAL):c.968A>G (p.Gln323Arg)	BICRAL (Q323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601525	NM_001393499.1(BICRAL):c.788A>G (p.Asn263Ser)	BICRAL (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599758	NM_001393499.1(BICRAL):c.2609C>T (p.Thr870Met)	BICRAL (T870M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590505	NM_001393499.1(BICRAL):c.2838A>T (p.Arg946Ser)	BICRAL (R946S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550674	NM_001393499.1(BICRAL):c.1651C>G (p.Pro551Ala)	BICRAL (P551A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547657	NM_001393499.1(BICRAL):c.2683A>G (p.Lys895Glu)	BICRAL (K895E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545985	NM_001393499.1(BICRAL):c.2498C>A (p.Ala833Asp)	BICRAL (A833D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542251	NM_001393499.1(BICRAL):c.1301C>G (p.Ser434Cys)	BICRAL (S434C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533354	NM_001393499.1(BICRAL):c.2371A>G (p.Met791Val)	BICRAL (M791V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529371	NM_001393499.1(BICRAL):c.2522G>A (p.Arg841Gln)	BICRAL (R841Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528899	NM_001393499.1(BICRAL):c.2807G>A (p.Gly936Asp)	BICRAL (G936D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463987	NM_001393499.1(BICRAL):c.2602G>A (p.Gly868Ser)	BICRAL (G868S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461104	NM_001393499.1(BICRAL):c.2171G>A (p.Arg724Gln)	BICRAL (R724Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460464	NM_001393499.1(BICRAL):c.3167C>T (p.Pro1056Leu)	BICRAL (P1056L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429954	NM_001393499.1(BICRAL):c.579dup (p.Ile194fs)	BICRAL (I194fs)	Duplication (frameshift variant)	Autism spectrum disorder	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 161692	NM_001393499.1(BICRAL):c.1778A>G (p.Lys593Arg)	BICRAL (K593R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 72