12785[HGNC] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 2307232	NM_006522.4(WNT6):c.25C>G (p.Leu9Val)	WNT6 (L9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190739	NM_006522.4(WNT6):c.149G>A (p.Arg50Gln)	WNT6 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535642	NM_006522.4(WNT6):c.181G>A (p.Val61Met)	WNT6 (V61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190740	NM_006522.4(WNT6):c.209G>A (p.Arg70Gln)	WNT6 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511632	NM_006522.4(WNT6):c.412C>T (p.Arg138Cys)	WNT6 (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190741	NM_006522.4(WNT6):c.427C>G (p.Pro143Ala)	WNT6 (P143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233737	NM_006522.4(WNT6):c.448G>A (p.Gly150Ser)	WNT6 (G150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190742	NM_006522.4(WNT6):c.522C>T (p.Asp174=)	WNT6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 189349	NM_006522.4(WNT6):c.570G>A (p.Arg190=)	WNT6	Single nucleotide variant (synonymous variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GLikely benign
Select item 2253954	NM_006522.4(WNT6):c.591C>A (p.Asp197Glu)	WNT6 (D197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651901	NM_006522.4(WNT6):c.627G>A (p.Ala209=)	WNT6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190743	NM_006522.4(WNT6):c.638C>T (p.Ala213Val)	WNT6 (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377300	NM_006522.4(WNT6):c.754G>C (p.Glu252Gln)	WNT6 (E252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190744	NM_006522.4(WNT6):c.817G>T (p.Val273Phe)	WNT6 (V273F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475546	NM_006522.4(WNT6):c.865G>C (p.Asp289His)	WNT6 (D289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190745	NM_006522.4(WNT6):c.999C>G (p.Ser333Arg)	WNT6 (S333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248624	NM_006522.4(WNT6):c.1000G>A (p.Val334Met)	WNT6 (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247494	NC_000002.11:g.(?_219646906)_(219942948_?)dup	CDK5R2, CFAP65 +9 more	Duplication	not provided	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1459325	NC_000002.11:g.(?_219646906)_(219738567_?)del	CYP27A1, PRKAG3 +1 more	Deletion	Cholestanol storage disease	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	RNF25, SLC11A1 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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: 48