8738[geneid] - ClinVar

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Items: 74

	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 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LOC130008424, LOC130008425 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 145323	GRCh38/hg38 12q22(chr12:93374113-94267175)x3	LOC130008438, LOC130008439 +49 more	Copy number gain	See cases	GUncertain significance
Select item 1029756	NM_003805.5(CRADD):c.-6-7T>C	CRADD	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 34	GUncertain significance
Select item 1029755	NM_003805.5(CRADD):c.-2A>G	CRADD	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 34	GUncertain significance
Select item 981900	NM_003805.5(CRADD):c.2T>C (p.Met1Thr)	CRADD (M1T)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GPathogenic
Select item 870252	NM_003805.5(CRADD):c.2T>G (p.Met1Arg)	CRADD (M1R)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, moderate	GPathogenic
Select item 2884662	NM_003805.5(CRADD):c.27C>T (p.Leu9=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025721	NM_003805.5(CRADD):c.28C>T (p.Arg10Cys)	CRADD (R10C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 756925	NM_003805.5(CRADD):c.39C>G (p.Arg13=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2192965	NM_003805.5(CRADD):c.43G>A (p.Glu15Lys)	CRADD (E15K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1458241	NM_003805.5(CRADD):c.52_59del (p.Ala18fs)	CRADD (A18fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1533576	NM_003805.5(CRADD):c.60A>C (p.Val20=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1245343	NM_003805.5(CRADD):c.103A>G (p.Ile35Val)	CRADD (I35V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2071258	NM_003805.5(CRADD):c.110C>T (p.Thr37Met)	CRADD (T37M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2420603	NM_003805.5(CRADD):c.112G>A (p.Glu38Lys)	CRADD (E38K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2184821	NM_003805.5(CRADD):c.130A>C (p.Ile44Leu)	CRADD (I44L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2416635	NM_003805.5(CRADD):c.134A>G (p.Asn45Ser)	CRADD (N45S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 784526	NM_003805.5(CRADD):c.151C>A (p.Leu51Ile)	CRADD (L51I)	Single nucleotide variant (missense variant +1 more)	CRADD-related condition +2 more	GLikely benign
Select item 2975248	NM_003805.5(CRADD):c.168C>T (p.Leu56=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272409	NM_003805.5(CRADD):c.194G>T (p.Gly65Val)	CRADD (G65V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2836378	NM_003805.5(CRADD):c.201A>G (p.Lys67=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715935	NM_003805.5(CRADD):c.204A>G (p.Ala68=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302299	NM_003805.5(CRADD):c.209A>T (p.Asp70Val)	CRADD (D70V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 806923	NM_003805.5(CRADD):c.211A>G (p.Thr71Ala)	CRADD (T71A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2542235	NM_003805.5(CRADD):c.251A>G (p.Glu84Gly)	CRADD (E84G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1949593	NM_003805.5(CRADD):c.261G>A (p.Lys87=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1555344	NM_003805.5(CRADD):c.264G>A (p.Lys88=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727000	NM_003805.5(CRADD):c.276G>A (p.Glu92=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 434822	NM_003805.5(CRADD):c.285dup (p.Asp96fs)	CRADD (D96fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3006248	NM_003805.5(CRADD):c.289C>G (p.Leu97Val)	CRADD (L97V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877306	NM_003805.5(CRADD):c.296C>T (p.Ala99Val)	CRADD (A99V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1259666	NM_003805.5(CRADD):c.298+58965G>A	CRADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2672514	NM_003805.5(CRADD):c.298+59132A>G	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1298552	NM_003805.5(CRADD):c.298+59159A>G	CRADD	Single nucleotide variant (synonymous variant +1 more)	CRADD-related condition +1 more	GLikely benign
Select item 915343	NM_003805.5(CRADD):c.298+59160del	CRADD (M111fs)	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1272656	NM_003805.5(CRADD):c.298+59209G>T	CRADD (G127V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1222624	NM_003805.5(CRADD):c.298+59212T>C	CRADD (M128T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1279087	NM_003805.5(CRADD):c.298+59338T>A	CRADD (I102N)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1291134	NM_003805.5(CRADD):c.299-75C>T	CRADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999005	NM_003805.5(CRADD):c.299-18T>G	CRADD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1034028	NM_003805.5(CRADD):c.316A>T (p.Ile106Phe)	CRADD (I106F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 34	GUncertain significance
Select item 3053029	NM_003805.5(CRADD):c.318C>T (p.Ile106=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	CRADD-related condition	GLikely benign
Select item 2192215	NM_003805.5(CRADD):c.342C>T (p.Ser114=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 30360	NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)	CRADD (G128R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2114260	NM_003805.5(CRADD):c.403G>T (p.Val135Leu)	CRADD (V135L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1259541	NM_003805.5(CRADD):c.406C>T (p.Leu136=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2889864	NM_003805.5(CRADD):c.428C>T (p.Thr143Met)	CRADD (T143M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 723082	NM_003805.5(CRADD):c.429G>A (p.Thr143=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 741412	NM_003805.5(CRADD):c.465C>T (p.Asn155=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1913908	NM_003805.5(CRADD):c.488C>T (p.Ala163Val)	CRADD (A163V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372192	NM_003805.5(CRADD):c.491T>G (p.Phe164Cys)	CRADD (F164C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 34	GPathogenic
Select item 434823	NM_003805.5(CRADD):c.497G>A (p.Arg166His)	CRADD (R166H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 793569	NM_003805.5(CRADD):c.498T>C (p.Arg166=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722687	NM_003805.5(CRADD):c.502C>T (p.Arg168Trp)	CRADD (R168W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1330154	NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)	CRADD (R168Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 372190	NM_003805.5(CRADD):c.508C>T (p.Arg170Cys)	CRADD (R170C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 34	GPathogenic
Select item 372191	NM_003805.5(CRADD):c.509G>A (p.Arg170His)	CRADD (R170H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GPathogenic
Select item 1539748	NM_003805.5(CRADD):c.531C>T (p.Phe177=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1675510	NM_003805.5(CRADD):c.546C>T (p.Asn182=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 785421	NM_003805.5(CRADD):c.554G>A (p.Arg185Gln)	CRADD (R185Q)	Single nucleotide variant (missense variant +1 more)	CRADD-related condition +1 more	GBenign/Likely benign
Select item 2397520	NM_003805.5(CRADD):c.575C>T (p.Ser192Leu)	CRADD (S192L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2554286	NM_003805.5(CRADD):c.589A>G (p.Met197Val)	CRADD (M197V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 740966	NM_003805.5(CRADD):c.597G>A (p.Glu199=)	CRADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3061535	NM_001320100.2(CRADD):c.*2C>T	CRADD	Single nucleotide variant (3 prime UTR variant +1 more)	CRADD-related condition	GLikely benign
Select item 2424767	NC_000012.11:g.(?_94243726)_(94244047_?)del	CRADD	Deletion	not provided	GPathogenic
Select item 687613	GRCh37/hg19 12q22(chr12:94001088-94162556)x3	CRADD	Copy number gain	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 686234	GRCh37/hg19 12q22(chr12:94090866-94616552)x3	CRADD, PLXNC1	Copy number gain	not provided	GUncertain significance
Select item 442921	GRCh37/hg19 12q22(chr12:94091911-94619578)x3	CRADD, PLXNC1	Copy number gain	See cases	GLikely benign
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 74