Related gene-specific medical variations for Gene (Select 988) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631792	NM_001253.4(CDC5L):c.1745T>G (p.Met582Arg)	CDC5L, POLR1C (M582R)	Single nucleotide variant (missense variant +1 more)	CDC5L-related condition	GUncertain significance
Select item 2629510	NM_001253.4(CDC5L):c.1277G>A (p.Arg426Gln)	CDC5L, POLR1C (R426Q)	Single nucleotide variant (missense variant +1 more)	CDC5L-related condition	GUncertain significance
Select item 2629345	NM_001253.4(CDC5L):c.147A>G (p.Arg49=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	CDC5L-related condition	GUncertain significance
Select item 2571251	NM_001253.4(CDC5L):c.759-4A>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2571250	NM_001253.4(CDC5L):c.438G>A (p.Glu146=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2539086	NM_001253.4(CDC5L):c.2248C>T (p.Arg750Cys)	CDC5L, POLR1C (R750C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527834	NM_001253.4(CDC5L):c.1587G>T (p.Glu529Asp)	CDC5L, POLR1C (E529D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508551	NM_001253.4(CDC5L):c.586A>T (p.Ile196Leu)	CDC5L, POLR1C (I196L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467832	NM_001253.4(CDC5L):c.650A>C (p.Glu217Ala)	CDC5L, POLR1C (E217A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460487	NM_001253.4(CDC5L):c.424A>G (p.Ile142Val)	CDC5L, POLR1C (I142V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455473	NM_001253.4(CDC5L):c.1562G>A (p.Arg521Gln)	CDC5L, POLR1C (R521Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403168	NM_001253.4(CDC5L):c.211C>G (p.Leu71Val)	CDC5L, POLR1C (L71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402780	NM_001253.4(CDC5L):c.1316C>T (p.Pro439Leu)	CDC5L, POLR1C (P439L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401523	NM_001253.4(CDC5L):c.2236C>T (p.His746Tyr)	CDC5L, POLR1C (H746Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385713	NM_001253.4(CDC5L):c.2249G>A (p.Arg750His)	CDC5L, POLR1C (R750H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383610	NM_001253.4(CDC5L):c.1025A>G (p.Asn342Ser)	CDC5L, POLR1C (N342S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376863	NM_001253.4(CDC5L):c.2225T>C (p.Ile742Thr)	CDC5L, POLR1C (I742T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322212	NM_001253.4(CDC5L):c.605G>C (p.Arg202Thr)	CDC5L, POLR1C (R202T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317382	NM_001253.4(CDC5L):c.2180G>A (p.Arg727His)	CDC5L, POLR1C (R727H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306065	NM_001253.4(CDC5L):c.775G>A (p.Asp259Asn)	CDC5L, POLR1C (D259N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301276	NM_001253.4(CDC5L):c.1334G>C (p.Arg445Pro)	CDC5L, POLR1C (R445P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265170	NM_001253.4(CDC5L):c.1946A>T (p.His649Leu)	CDC5L, POLR1C (H649L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242188	NM_001253.4(CDC5L):c.605G>A (p.Arg202Lys)	CDC5L, POLR1C (R202K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239399	NM_001253.4(CDC5L):c.445C>T (p.Leu149Phe)	CDC5L, POLR1C (L149F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1287262	NM_001253.4(CDC5L):c.904-262T>C	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282740	NM_001253.4(CDC5L):c.279G>A (p.Ala93=)	POLR1C, CDC5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1281090	NM_001253.4(CDC5L):c.311+115A>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279357	NM_001253.4(CDC5L):c.1570-205G>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275507	NM_001253.4(CDC5L):c.149+336T>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274048	NM_001253.4(CDC5L):c.150-249T>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273866	NM_001253.4(CDC5L):c.45+94T>C	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258468	NM_001253.4(CDC5L):c.1241+183C>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244013	NM_001253.4(CDC5L):c.1404+218G>T	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241840	NM_001253.4(CDC5L):c.1894-169G>C	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240804	NM_001253.4(CDC5L):c.45+77G>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240583	NM_001253.4(CDC5L):c.903+304G>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237785	NM_001253.4(CDC5L):c.46-121T>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231819	NM_001253.4(CDC5L):c.1241+256C>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230671	NM_001253.4(CDC5L):c.1405-140A>C	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230408	NM_001253.4(CDC5L):c.2304+132A>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228167	NM_001253.4(CDC5L):c.708C>T (p.Asp236=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1224161	NM_001253.4(CDC5L):c.2163T>A (p.Leu721=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1223224	NM_001253.4(CDC5L):c.1569+194G>A	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222022	NM_001253.4(CDC5L):c.2091+235T>C	POLR1C, CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183251	NM_001253.4(CDC5L):c.903+263A>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787834	NM_001253.4(CDC5L):c.1854T>C (p.His618=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742232	NM_001253.4(CDC5L):c.929T>C (p.Val310Ala)	CDC5L, POLR1C (V310A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 633652	NM_001253.4(CDC5L):c.2014C>T (p.Pro672Ser)	CDC5L, POLR1C (P672S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560247	NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg)	CDC5L, POLR1C (Q233R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224338	NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg)	CDC5L, POLR1C (K601R)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance

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Links from Gene

Items: 50