ClinVar for Gene (Select 64853) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3102491	NM_022831.4(AIDA):c.838A>G (p.Thr280Ala)	AIDA (T280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 2605937	NM_022831.4(AIDA):c.592G>A (p.Gly198Ser)	AIDA (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548835	NM_022831.4(AIDA):c.794A>T (p.Glu265Val)	AIDA (E265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548833	NM_022831.4(AIDA):c.133G>A (p.Glu45Lys)	AIDA (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463190	NM_022831.4(AIDA):c.814G>A (p.Val272Ile)	AIDA (V272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387333	NM_022831.4(AIDA):c.622C>T (p.Pro208Ser)	AIDA (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370154	NM_022831.4(AIDA):c.575G>C (p.Ser192Thr)	AIDA (S192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314045	NM_022831.4(AIDA):c.553A>G (p.Ile185Val)	AIDA (I185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310014	NM_022831.4(AIDA):c.10G>T (p.Val4Leu)	AIDA (V4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527570	GRCh37/hg19 1q41(chr1:222153928-223209242)	AIDA, BROX +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 979933	GRCh37/hg19 1q41(chr1:222872455-223180337)x1	FAM177B, BROX +2 more	Copy number loss	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 148650	GRCh38/hg38 1q41(chr1:221979950-223007060)x3	AIDA, BROX +34 more	Copy number gain	See cases	GUncertain significance
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41