DLX2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	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 2263270	NM_004405.4(DLX2):c.892C>A (p.Pro298Thr)	DLX2 (P298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722902	NM_004405.4(DLX2):c.891G>T (p.Ala297=)	DLX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2205521	NM_004405.4(DLX2):c.872C>T (p.Ser291Leu)	DLX2 (S291L)	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 3082945	NM_004405.4(DLX2):c.787G>T (p.Gly263Cys)	DLX2 (G263C)	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 2554324	NM_004405.4(DLX2):c.771T>A (p.Ser257Arg)	DLX2 (S257R)	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 2350290	NM_004405.4(DLX2):c.700C>G (p.Pro234Ala)	DLX2 (P234A)	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 2336528	NM_004405.4(DLX2):c.568G>A (p.Gly190Ser)	DLX2 (G190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741970	NM_004405.4(DLX2):c.495G>T (p.Ala165=)	DLX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3082943	NM_004405.4(DLX2):c.439G>A (p.Gly147Arg)	DLX2 (G147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722697	NM_004405.4(DLX2):c.255G>C (p.Ala85=)	DLX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3082946	NM_004405.4(DLX2):c.88C>T (p.Pro30Ser)	DLX2 (P30S)	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 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	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	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger 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 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

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Items: 41