11441[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 2331107	NM_005819.6(STX6):c.733C>G (p.Leu245Val)	STX6 (L144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214104	NM_005819.6(STX6):c.641G>A (p.Arg214Gln)	STX6 (R113Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407503	NM_005819.6(STX6):c.640C>T (p.Arg214Trp)	STX6 (R113W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557405	NM_005819.6(STX6):c.631A>G (p.Thr211Ala)	STX6 (T211A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615151	NM_005819.6(STX6):c.598A>G (p.Met200Val)	STX6 (M99V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376323	NM_005819.6(STX6):c.566G>A (p.Arg189His)	STX6 (R189H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323475	NM_005819.6(STX6):c.559T>A (p.Ser187Thr)	STX6 (S86T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171771	NM_005819.6(STX6):c.495C>G (p.Ile165Met)	STX6 (I165M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557590	NM_005819.6(STX6):c.463A>T (p.Ile155Phe)	STX6 (I54F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256034	NM_005819.6(STX6):c.445A>G (p.Arg149Gly)	STX6 (R149G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323474	NM_005819.6(STX6):c.370C>A (p.Leu124Met)	STX6 (L124M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171770	NM_005819.6(STX6):c.356A>G (p.Asn119Ser)	STX6 (N18S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171769	NM_005819.6(STX6):c.322A>G (p.Thr108Ala)	STX6 (T108A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293398	NM_005819.6(STX6):c.313C>G (p.Gln105Glu)	STX6 (Q105E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399199	NM_005819.6(STX6):c.312T>A (p.Asp104Glu)	STX6 (D104E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527539	NM_005819.6(STX6):c.286C>T (p.Arg96Trp)	STX6 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171773	NM_005819.6(STX6):c.8T>C (p.Met3Thr)	STX6 (M3T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	ACBD6, AXDND1 +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979313	GRCh37/hg19 1q25.3(chr1:180908145-181004325)x1	MR1, STX6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814147	GRCh37/hg19 1q25.3(chr1:180818504-181422323)x3	IER5, STX6 +3 more	Copy number gain	not provided	GLikely benign
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685859	GRCh37/hg19 1q25.3(chr1:180651735-181064967)x3	IER5, KIAA1614 +3 more	Copy number gain	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50