Related gene-specific medical variations for Gene (Select 353497) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283529	NM_001303143.2(HAUS3):c.509C>G (p.Thr170Ser)	HAUS3, POLN (T170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283528	NM_001303143.2(HAUS3):c.1319C>A (p.Thr440Asn)	HAUS3, POLN (T440N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283526	NM_001303143.2(HAUS3):c.441G>T (p.Lys147Asn)	HAUS3, POLN (K147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283525	NM_001303143.2(HAUS3):c.36A>T (p.Lys12Asn)	HAUS3, POLN (K12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283524	NM_001303143.2(HAUS3):c.1275G>A (p.Met425Ile)	HAUS3, POLN (M425I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3283523	NM_001303143.2(HAUS3):c.544C>G (p.His182Asp)	HAUS3, POLN (H182D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283522	NM_001303143.2(HAUS3):c.343C>G (p.Leu115Val)	HAUS3, POLN (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283521	NM_001303143.2(HAUS3):c.491A>G (p.Asn164Ser)	HAUS3, POLN (N164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283520	NM_001303143.2(HAUS3):c.14A>T (p.Asn5Ile)	HAUS3, POLN (N5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104327	NM_001303143.2(HAUS3):c.944C>G (p.Ser315Cys)	HAUS3, POLN (S315C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104326	NM_001303143.2(HAUS3):c.797A>G (p.Gln266Arg)	HAUS3, POLN (Q266R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104325	NM_001303143.2(HAUS3):c.776G>A (p.Arg259Gln)	HAUS3, POLN (R259Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104323	NM_001303143.2(HAUS3):c.1678T>G (p.Leu560Val)	HAUS3, POLN (L560V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104322	NM_001303143.2(HAUS3):c.1494C>A (p.Phe498Leu)	HAUS3, POLN (F498L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104321	NM_001303143.2(HAUS3):c.1303A>G (p.Ile435Val)	HAUS3, POLN (I435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689195	NM_001303143.2(HAUS3):c.1679T>C (p.Leu560Ser)	HAUS3, POLN (L560S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2619104	NM_181808.4(POLN):c.128C>T (p.Thr43Ile)	HAUS3, POLN (T43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616924	NM_001303143.2(HAUS3):c.215T>C (p.Leu72Pro)	HAUS3, POLN (L72P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567747	NM_001303143.2(HAUS3):c.140T>C (p.Val47Ala)	HAUS3, POLN (V47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558009	NM_001303143.2(HAUS3):c.635C>T (p.Ala212Val)	HAUS3, POLN (A212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557962	NM_181808.4(POLN):c.1328T>C (p.Ile443Thr)	LOC126806946, POLN (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553752	NM_001303143.2(HAUS3):c.1513A>G (p.Lys505Glu)	HAUS3, POLN (K505E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545458	NM_001303143.2(HAUS3):c.1208G>T (p.Arg403Leu)	HAUS3, POLN (R403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520799	NM_001303143.2(HAUS3):c.660A>T (p.Lys220Asn)	HAUS3, POLN (K220N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520633	NM_001303143.2(HAUS3):c.808A>G (p.Ile270Val)	HAUS3, POLN (I270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516081	NM_001303143.2(HAUS3):c.704A>G (p.Glu235Gly)	HAUS3, POLN (E235G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489982	NM_001303143.2(HAUS3):c.1760T>C (p.Val587Ala)	HAUS3, POLN (V587A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484777	NM_181808.4(POLN):c.115T>C (p.Trp39Arg)	HAUS3, POLN (W39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410016	NM_001303143.2(HAUS3):c.359G>T (p.Arg120Leu)	HAUS3, POLN (R120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393887	NM_001303143.2(HAUS3):c.946A>G (p.Ser316Gly)	HAUS3, POLN (S316G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386799	NM_001303143.2(HAUS3):c.428A>C (p.Glu143Ala)	HAUS3, POLN (E143A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374831	NM_001303143.2(HAUS3):c.1229A>G (p.Gln410Arg)	HAUS3, POLN (Q410R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364784	NM_001303143.2(HAUS3):c.779T>C (p.Leu260Pro)	HAUS3, POLN (L260P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363750	NM_001303143.2(HAUS3):c.1333G>A (p.Asp445Asn)	HAUS3, POLN (D445N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354642	NM_001303143.2(HAUS3):c.1003A>G (p.Ser335Gly)	HAUS3, POLN (S335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316190	NM_001303143.2(HAUS3):c.940A>T (p.Ile314Phe)	HAUS3, POLN (I314F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300811	NM_001303143.2(HAUS3):c.1759G>A (p.Val587Met)	HAUS3, POLN (V587M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296432	NM_181808.4(POLN):c.95A>T (p.Asp32Val)	HAUS3, POLN (D32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279553	NM_001303143.2(HAUS3):c.1369G>A (p.Gly457Arg)	HAUS3, POLN (G457R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266682	NM_001303143.2(HAUS3):c.1250T>G (p.Met417Arg)	HAUS3, POLN (M417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254973	NM_001303143.2(HAUS3):c.298G>A (p.Glu100Lys)	HAUS3, POLN (E100K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246753	NM_001303143.2(HAUS3):c.274C>G (p.Pro92Ala)	HAUS3, POLN (P92A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234481	NM_181808.4(POLN):c.92G>A (p.Gly31Asp)	HAUS3, POLN (G31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219950	NM_001303143.2(HAUS3):c.434C>T (p.Thr145Ile)	HAUS3, POLN (T145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213282	NM_001303143.2(HAUS3):c.351T>G (p.Ile117Met)	HAUS3, POLN (I117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204042	NM_001303143.2(HAUS3):c.1553G>A (p.Gly518Glu)	HAUS3, POLN (G518E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161845	NM_181808.4(POLN):c.2267G>A (p.Arg756Gln)	POLN (R756Q)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 47