ClinVar for Gene (Select 1746) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272330	NM_004405.4(DLX2):c.848A>T (p.Tyr283Phe)	DLX2 (Y283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082946	NM_004405.4(DLX2):c.88C>T (p.Pro30Ser)	DLX2 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082945	NM_004405.4(DLX2):c.787G>T (p.Gly263Cys)	DLX2 (G263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082944	NM_004405.4(DLX2):c.740A>C (p.Gln247Pro)	DLX2 (Q247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082943	NM_004405.4(DLX2):c.439G>A (p.Gly147Arg)	DLX2 (G147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082942	NM_004405.4(DLX2):c.11T>A (p.Val4Asp)	DLX2 (V4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2610959	NM_004405.4(DLX2):c.880C>A (p.Gln294Lys)	DLX2 (Q294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554324	NM_004405.4(DLX2):c.771T>A (p.Ser257Arg)	DLX2 (S257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533202	NM_004405.4(DLX2):c.181G>A (p.Ala61Thr)	DLX2 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476002	NM_004405.4(DLX2):c.454G>A (p.Val152Ile)	DLX2 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466817	NM_004405.4(DLX2):c.787G>C (p.Gly263Arg)	DLX2 (G263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 2350290	NM_004405.4(DLX2):c.700C>G (p.Pro234Ala)	DLX2 (P234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336528	NM_004405.4(DLX2):c.568G>A (p.Gly190Ser)	DLX2 (G190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290223	NM_004405.4(DLX2):c.640G>A (p.Gly214Ser)	DLX2 (G214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263270	NM_004405.4(DLX2):c.892C>A (p.Pro298Thr)	DLX2 (P298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262507	NM_004405.4(DLX2):c.793T>G (p.Ser265Ala)	DLX2 (S265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205521	NM_004405.4(DLX2):c.872C>T (p.Ser291Leu)	DLX2 (S291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814343	GRCh37/hg19 2q31.1(chr2:172808946-173003710)x3	DLX1, HAT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 741970	NM_004405.4(DLX2):c.495G>T (p.Ala165=)	DLX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722902	NM_004405.4(DLX2):c.891G>T (p.Ala297=)	DLX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722697	NM_004405.4(DLX2):c.255G>C (p.Ala85=)	DLX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	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

Links from Gene

Items: 42