"GeneDx"[submitter] AND "LOC129992813"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 1684060	NC_000004.12:g.88007437G>A	LOC129992813, PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 1300458	NC_000004.12:g.88007613G>A	LOC129992813, PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 350007	NM_000297.4(PKD2):c.-82G>C	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease 2 +1 more	GLikely benign
Select item 2078491	NM_000297.4(PKD2):c.2T>A (p.Met1Lys)	LOC129992813, PKD2 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1810101	NM_000297.4(PKD2):c.11C>A (p.Ser4Tyr)	LOC129992813, PKD2 (S4Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 92798	NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)	LOC129992813, PKD2 (R28P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 2574209	NM_000297.4(PKD2):c.136C>T (p.Leu46Phe)	LOC129992813, PKD2 (L46F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1435552	NM_000297.4(PKD2):c.196G>C (p.Asp66His)	LOC129992813, PKD2 (D66H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 477627	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	LOC129992813, PKD2 (A69fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 1313310	NM_000297.4(PKD2):c.256G>A (p.Ala86Thr)	LOC129992813, PKD2 (A86T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 193079	NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)	LOC129992813, PKD2	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1314508	NM_000297.4(PKD2):c.290AGG[4] (p.Glu101_Glu102del)	LOC129992813, PKD2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 350014	NM_000297.4(PKD2):c.356G>A (p.Arg119His)	LOC129992813, PKD2 (R119H)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 2086126	NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)	LOC129992813, PKD2 (S129W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 92795	NM_000297.4(PKD2):c.420G>A (p.Gly140=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 639450	NM_000297.4(PKD2):c.473del (p.Glu158fs)	LOC129992813, PKD2 (E158fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 448037	NM_000297.4(PKD2):c.514del (p.Asp172fs)	LOC129992813, PKD2 (D172fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 702927	NM_000297.4(PKD2):c.531C>T (p.His177=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92796	NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)	LOC129992813, PKD2 (A190T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 255795	NM_000297.4(PKD2):c.570G>T (p.Ala190=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign

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Items: 23