PODXL2[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 2514315	NM_015720.4(PODXL2):c.5G>A (p.Gly2Asp)	PODXL2 (G2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334428	NM_015720.4(PODXL2):c.7C>T (p.Arg3Trp)	PODXL2 (R3W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259754	NM_015720.4(PODXL2):c.25C>T (p.Arg9Trp)	PODXL2 (R9W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496005	NM_015720.4(PODXL2):c.65T>G (p.Val22Gly)	PODXL2 (V22G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537152	NM_015720.4(PODXL2):c.581G>A (p.Gly194Glu)	PODXL2 (G194E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369588	NM_015720.4(PODXL2):c.605A>G (p.Gln202Arg)	PODXL2 (Q202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527364	NM_015720.4(PODXL2):c.649G>A (p.Ala217Thr)	PODXL2 (A217T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596395	NM_015720.4(PODXL2):c.662G>A (p.Arg221Lys)	PODXL2 (R221K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343431	NM_015720.4(PODXL2):c.676G>A (p.Gly226Arg)	PODXL2 (G226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214719	NM_015720.4(PODXL2):c.689C>T (p.Ser230Leu)	PODXL2 (S230L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216083	NM_015720.4(PODXL2):c.748C>G (p.Pro250Ala)	PODXL2 (P250A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612396	NM_015720.4(PODXL2):c.794C>T (p.Ala265Val)	PODXL2 (A265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273296	NM_015720.4(PODXL2):c.814G>T (p.Ala272Ser)	PODXL2 (A272S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308767	NM_015720.4(PODXL2):c.839A>C (p.Glu280Ala)	PODXL2 (E280A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491487	NM_015720.4(PODXL2):c.868A>G (p.Thr290Ala)	PODXL2 (T290A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323943	NM_015720.4(PODXL2):c.927C>A (p.Phe309Leu)	PODXL2 (F309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359291	NM_015720.4(PODXL2):c.961C>G (p.Pro321Ala)	PODXL2 (P321A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540320	NM_015720.4(PODXL2):c.977T>C (p.Leu326Pro)	PODXL2 (L326P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322713	NM_015720.4(PODXL2):c.1010C>G (p.Ala337Gly)	PODXL2 (A337G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524699	NM_015720.4(PODXL2):c.1018G>A (p.Asp340Asn)	PODXL2 (D340N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594943	NM_015720.4(PODXL2):c.1051G>A (p.Gly351Arg)	PODXL2 (G351R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556291	NM_015720.4(PODXL2):c.1070A>G (p.Gln357Arg)	PODXL2 (Q357R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654107	NM_015720.4(PODXL2):c.1077C>T (p.Leu359=)	PODXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250155	NM_015720.4(PODXL2):c.1085G>A (p.Gly362Glu)	PODXL2 (G362E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596329	NM_015720.4(PODXL2):c.1366G>A (p.Val456Met)	PODXL2 (V456M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383041	NM_015720.4(PODXL2):c.1450A>G (p.Thr484Ala)	PODXL2 (T484A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517219	NM_015720.4(PODXL2):c.1483C>G (p.Arg495Gly)	PODXL2 (R495G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537647	NM_015720.4(PODXL2):c.1498A>G (p.Thr500Ala)	PODXL2 (T500A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398323	NM_015720.4(PODXL2):c.1612G>A (p.Gly538Ser)	LOC129937491, PODXL2 (G538S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614934	NM_015720.4(PODXL2):c.1649A>T (p.Asp550Val)	LOC129937491, PODXL2 (D550V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480542	NM_015720.4(PODXL2):c.1763G>C (p.Gly588Ala)	LOC129937492, PODXL2 (G588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265900	NM_015720.4(PODXL2):c.1765G>A (p.Gly589Ser)	LOC129937492, PODXL2 (G589S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296724	NM_015720.4(PODXL2):c.1766G>A (p.Gly589Asp)	LOC129937492, PODXL2 (G589D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353027	NM_015720.4(PODXL2):c.1782G>T (p.Glu594Asp)	LOC129937492, PODXL2 (E594D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2425851	NC_000003.11:g.(?_126707437)_(127783900_?)del	PRR23E, MGLL +7 more	Deletion	not provided	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 64