1743[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 1281135	NM_001318876.2(POLR1C):c.946-54399A>C	CDC5L	Single nucleotide variant	not provided	GBenign
Select item 1281488	NM_001253.3(CDC5L):c.-162G>T	CDC5L, LOC129996571	Single nucleotide variant	not provided	GBenign
Select item 1265429	NM_001253.3(CDC5L):c.-138C>T	CDC5L, LOC129996571	Single nucleotide variant	not provided	GBenign
Select item 3034944	NM_001253.4(CDC5L):c.-7C>T	CDC5L	Single nucleotide variant (5 prime UTR variant)	CDC5L-related disorder	GLikely benign
Select item 3040564	NM_001253.4(CDC5L):c.-2A>G	CDC5L	Single nucleotide variant (5 prime UTR variant)	CDC5L-related disorder	GLikely benign
Select item 1240804	NM_001253.4(CDC5L):c.45+77G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273866	NM_001253.4(CDC5L):c.45+94T>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237785	NM_001253.4(CDC5L):c.46-121T>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043958	NM_001253.4(CDC5L):c.66G>A (p.Ala22=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GLikely benign
Select item 2629345	NM_001253.4(CDC5L):c.147A>G (p.Arg49=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GUncertain significance
Select item 1275507	NM_001253.4(CDC5L):c.149+336T>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274048	NM_001253.4(CDC5L):c.150-249T>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2403168	NM_001253.4(CDC5L):c.211C>G (p.Leu71Val)	CDC5L (L71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031500	NM_001253.4(CDC5L):c.237A>G (p.Pro79=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GLikely benign
Select item 1282740	NM_001253.4(CDC5L):c.279G>A (p.Ala93=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1281090	NM_001253.4(CDC5L):c.311+115A>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2460487	NM_001253.4(CDC5L):c.424A>G (p.Ile142Val)	CDC5L (I142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571250	NM_001253.4(CDC5L):c.438G>A (p.Glu146=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2239399	NM_001253.4(CDC5L):c.445C>T (p.Leu149Phe)	CDC5L (L149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048165	NM_001253.4(CDC5L):c.526T>C (p.Leu176=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GLikely benign
Select item 2508551	NM_001253.4(CDC5L):c.586A>T (p.Ile196Leu)	CDC5L (I196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322212	NM_001253.4(CDC5L):c.605G>C (p.Arg202Thr)	CDC5L (R202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242188	NM_001253.4(CDC5L):c.605G>A (p.Arg202Lys)	CDC5L (R202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467832	NM_001253.4(CDC5L):c.650A>C (p.Glu217Ala)	CDC5L (E217A)	Single nucleotide variant (missense variant)	not specified	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 1228167	NM_001253.4(CDC5L):c.708C>T (p.Asp236=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2571251	NM_001253.4(CDC5L):c.759-4A>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2306065	NM_001253.4(CDC5L):c.775G>A (p.Asp259Asn)	CDC5L (D259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183251	NM_001253.4(CDC5L):c.903+263A>G	CDC5L, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240583	NM_001253.4(CDC5L):c.903+304G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287262	NM_001253.4(CDC5L):c.904-262T>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037280	NM_001253.4(CDC5L):c.904-10G>A	CDC5L	Single nucleotide variant (intron variant)	CDC5L-related disorder	GLikely benign
Select item 3040390	NM_001253.4(CDC5L):c.915A>G (p.Ala305=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GBenign
Select item 742232	NM_001253.4(CDC5L):c.929T>C (p.Val310Ala)	POLR1C, CDC5L (V310A)	Single nucleotide variant (missense variant)	CDC5L-related disorder +1 more	GLikely benign
Select item 2383610	NM_001253.4(CDC5L):c.1025A>G (p.Asn342Ser)	CDC5L (N342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048800	NM_001253.4(CDC5L):c.1140A>G (p.Lys380=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GLikely benign
Select item 1258468	NM_001253.4(CDC5L):c.1241+183C>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231819	NM_001253.4(CDC5L):c.1241+256C>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629510	NM_001253.4(CDC5L):c.1277G>A (p.Arg426Gln)	CDC5L (R426Q)	Single nucleotide variant (missense variant)	CDC5L-related disorder	GUncertain significance
Select item 2402780	NM_001253.4(CDC5L):c.1316C>T (p.Pro439Leu)	CDC5L (P439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301276	NM_001253.4(CDC5L):c.1334G>C (p.Arg445Pro)	CDC5L (R445P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140969	NM_001253.4(CDC5L):c.1374C>G (p.Asp458Glu)	CDC5L (D458E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044773	NM_001253.4(CDC5L):c.1376A>G (p.Tyr459Cys)	CDC5L (Y459C)	Single nucleotide variant (missense variant)	CDC5L-related disorder	GBenign
Select item 1244013	NM_001253.4(CDC5L):c.1404+218G>T	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230671	NM_001253.4(CDC5L):c.1405-140A>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043490	NM_001253.4(CDC5L):c.1500G>A (p.Lys500=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GLikely benign
Select item 3031164	NM_001253.4(CDC5L):c.1548T>C (p.Ala516=)	CDC5L	Single nucleotide variant (synonymous variant)	CDC5L-related disorder	GLikely benign
Select item 2455473	NM_001253.4(CDC5L):c.1562G>A (p.Arg521Gln)	CDC5L (R521Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1223224	NM_001253.4(CDC5L):c.1569+194G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279357	NM_001253.4(CDC5L):c.1570-205G>A	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2527834	NM_001253.4(CDC5L):c.1587G>T (p.Glu529Asp)	CDC5L (E529D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265033	NM_001253.4(CDC5L):c.1588C>G (p.Arg530Gly)	CDC5L (R530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265030	NM_001253.4(CDC5L):c.1688C>T (p.Pro563Leu)	CDC5L (P563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631792	NM_001253.4(CDC5L):c.1745T>G (p.Met582Arg)	CDC5L (M582R)	Single nucleotide variant (missense variant)	CDC5L-related disorder	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
Select item 3140970	NM_001253.4(CDC5L):c.1853A>C (p.His618Pro)	CDC5L (H618P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787834	NM_001253.4(CDC5L):c.1854T>C (p.His618=)	CDC5L, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241840	NM_001253.4(CDC5L):c.1894-169G>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2265170	NM_001253.4(CDC5L):c.1946A>T (p.His649Leu)	CDC5L (H649L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3265034	NM_001253.4(CDC5L):c.2026C>T (p.Arg676Cys)	CDC5L (R676C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265032	NM_001253.4(CDC5L):c.2042A>G (p.Asn681Ser)	CDC5L (N681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222022	NM_001253.4(CDC5L):c.2091+235T>C	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3265031	NM_001253.4(CDC5L):c.2110A>G (p.Thr704Ala)	CDC5L (T704A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044987	NM_001253.4(CDC5L):c.2160G>C (p.Leu720Phe)	CDC5L (L720F)	Single nucleotide variant (missense variant)	CDC5L-related disorder	GBenign
Select item 1224161	NM_001253.4(CDC5L):c.2163T>A (p.Leu721=)	CDC5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317382	NM_001253.4(CDC5L):c.2180G>A (p.Arg727His)	CDC5L (R727H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376863	NM_001253.4(CDC5L):c.2225T>C (p.Ile742Thr)	CDC5L (I742T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401523	NM_001253.4(CDC5L):c.2236C>T (p.His746Tyr)	CDC5L (H746Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539086	NM_001253.4(CDC5L):c.2248C>T (p.Arg750Cys)	CDC5L (R750C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385713	NM_001253.4(CDC5L):c.2249G>A (p.Arg750His)	CDC5L (R750H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230408	NM_001253.4(CDC5L):c.2304+132A>G	CDC5L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 82