PKD2L2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 2347745	NM_001300921.2(PKD2L2):c.23A>G (p.His8Arg)	PKD2L2 (H8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550899	NM_001300921.2(PKD2L2):c.44A>G (p.His15Arg)	PKD2L2 (H15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266575	NM_001300921.2(PKD2L2):c.83C>T (p.Thr28Ile)	PKD2L2 (T28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494040	NM_001300921.2(PKD2L2):c.94T>G (p.Leu32Val)	PKD2L2 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213697	NM_001300921.2(PKD2L2):c.128G>A (p.Cys43Tyr)	PKD2L2 (C43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306951	NM_001300921.2(PKD2L2):c.283C>T (p.Leu95Phe)	PKD2L2 (L95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213701	NM_001300921.2(PKD2L2):c.353G>A (p.Arg118His)	PKD2L2 (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403881	NM_001300921.2(PKD2L2):c.359A>G (p.Tyr120Cys)	PKD2L2 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457455	NM_001300921.2(PKD2L2):c.417C>G (p.Asn139Lys)	PKD2L2 (N139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598825	NM_001300921.2(PKD2L2):c.452T>C (p.Met151Thr)	PKD2L2 (M151T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264993	NM_001300921.2(PKD2L2):c.781C>A (p.Leu261Ile)	PKD2L2 (L261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213702	NM_001300921.2(PKD2L2):c.793C>G (p.Gln265Glu)	PKD2L2 (Q265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213703	NM_001300921.2(PKD2L2):c.823G>A (p.Val275Ile)	PKD2L2 (V275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554003	NM_001300921.2(PKD2L2):c.912A>G (p.Ile304Met)	PKD2L2 (I304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213704	NM_001300921.2(PKD2L2):c.955C>G (p.Leu319Val)	PKD2L2 (L319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549421	NM_001300921.2(PKD2L2):c.967C>T (p.Leu323Phe)	PKD2L2 (L323F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213695	NM_001300921.2(PKD2L2):c.1022T>A (p.Ile341Asn)	PKD2L2 (I341N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476596	NM_001300921.2(PKD2L2):c.1043T>C (p.Leu348Pro)	PKD2L2 (L326P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213696	NM_001300921.2(PKD2L2):c.1052G>T (p.Ser351Ile)	PKD2L2 (S329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366858	NM_001300921.2(PKD2L2):c.1138T>C (p.Trp380Arg)	PKD2L2 (W358R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306952	NM_001300921.2(PKD2L2):c.1234A>G (p.Ile412Val)	PKD2L2 (I390V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306950	NM_001300921.2(PKD2L2):c.1294C>A (p.Gln432Lys)	PKD2L2 (Q432K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338115	NM_001300921.2(PKD2L2):c.1317T>A (p.Phe439Leu)	PKD2L2 (F439L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606485	NM_001300921.2(PKD2L2):c.1330T>C (p.Phe444Leu)	PKD2L2 (F422L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205373	NM_001300921.2(PKD2L2):c.1351C>A (p.Leu451Ile)	PKD2L2 (L429I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332812	NM_001300921.2(PKD2L2):c.1387A>T (p.Asn463Tyr)	PKD2L2 (N441Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225552	NM_001300921.2(PKD2L2):c.1391C>G (p.Pro464Arg)	PKD2L2 (P442R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3213698	NM_001300921.2(PKD2L2):c.1417A>T (p.Thr473Ser)	PKD2L2 (T451S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213699	NM_001300921.2(PKD2L2):c.1478C>A (p.Thr493Asn)	PKD2L2 (T471N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343430	NM_001300921.2(PKD2L2):c.1570G>A (p.Glu524Lys)	PKD2L2 (E423K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368961	NM_001300921.2(PKD2L2):c.1627G>A (p.Gly543Arg)	PKD2L2 (G442R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213700	NM_001300921.2(PKD2L2):c.1634T>G (p.Leu545Trp)	PKD2L2 (L444W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594518	NM_001300921.2(PKD2L2):c.1694T>A (p.Met565Lys)	PKD2L2 (M565K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568974	NM_001300921.2(PKD2L2):c.1730A>C (p.Tyr577Ser)	PKD2L2 (Y476S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349037	NM_001300921.2(PKD2L2):c.1775A>C (p.Glu592Ala)	PKD2L2 (E570A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293262	NM_001300921.2(PKD2L2):c.*18-2248A>C	FAM13B, PKD2L2 (K611Q)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2526465	NM_001385994.1(FAM13B):c.2696C>T (p.Ala899Val)	FAM13B, PKD2L2 (A617V +16 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3246511	NC_000005.9:g.(?_137206341)_(137523102_?)dup	WNT8A, NME5 +5 more	Duplication	not provided	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 56