Related gene-specific medical variations for Gene (Select 545) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2992214	NM_001184.4(ATR):c.6199T>C (p.Tyr2067His)	ATR, LOC126806830 (Y2067H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981928	NM_001184.4(ATR):c.33G>T (p.Met11Ile)	ATR, LOC129937703 (M11I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960208	NM_001184.4(ATR):c.6079-16A>G	ATR, LOC126806830	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959323	NM_001184.4(ATR):c.6079-5dup	ATR, LOC126806830	Duplication (intron variant)	not provided	GBenign
Select item 2914888	NM_001184.4(ATR):c.6138T>C (p.Tyr2046=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888672	NM_001184.4(ATR):c.6080A>G (p.Asp2027Gly)	ATR, LOC126806830 (D2027G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821736	NM_001184.4(ATR):c.6101A>C (p.Glu2034Ala)	ATR, LOC126806830 (E1970A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764501	NM_001184.4(ATR):c.6079-2A>G	ATR, LOC126806830	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2624942	NM_001184.4(ATR):c.6136T>C (p.Tyr2046His)	ATR, LOC126806830 (Y2046H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587560	NM_001184.4(ATR):c.56G>A (p.Gly19Asp)	ATR, LOC129937703 (G19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567821	NM_001184.4(ATR):c.6175G>A (p.Glu2059Lys)	ATR, LOC126806830 (E1995K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561353	NM_001184.4(ATR):c.52C>T (p.Leu18=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2496642	NM_001184.4(ATR):c.55G>T (p.Gly19Cys)	ATR, LOC129937703 (G19C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453517	NM_001184.4(ATR):c.6201T>C (p.Tyr2067=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2447389	NM_001184.4(ATR):c.6157G>A (p.Val2053Ile)	ATR, LOC126806830 (V2053I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447379	NM_001184.4(ATR):c.6131A>G (p.Lys2044Arg)	ATR, LOC126806830 (K1980R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428555	NM_001184.4(ATR):c.2009G>A (p.Ser670Asn)	ATR (S606N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414502	NM_001184.4(ATR):c.59+19T>C	ATR, LOC129937703	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194025	NM_001184.4(ATR):c.59+13C>T	ATR, LOC129937703	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169717	NM_001184.4(ATR):c.29C>T (p.Ser10Phe)	ATR, LOC129937703 (S10F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113860	NM_001184.4(ATR):c.6182A>G (p.Gln2061Arg)	ATR, LOC126806830 (Q1997R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081953	NM_001184.4(ATR):c.6189T>C (p.Asp2063=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1752242	NM_001184.4(ATR):c.6217G>A (p.Gly2073Ser)	ATR, LOC126806830 (G2009S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752198	NM_001184.4(ATR):c.6208C>A (p.Leu2070Ile)	ATR, LOC126806830 (L2006I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752082	NM_001184.4(ATR):c.6185G>A (p.Gly2062Asp)	ATR, LOC126806830 (G2062D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752033	NM_001184.4(ATR):c.6179A>G (p.Lys2060Arg)	ATR, LOC126806830 (K2060R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751980	NM_001184.4(ATR):c.6168C>G (p.Asn2056Lys)	LOC126806830, ATR (N1992K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751975	NM_001184.4(ATR):c.6167A>G (p.Asn2056Ser)	ATR, LOC126806830 (N1992S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1751963	NM_001184.4(ATR):c.6162A>G (p.Thr2054=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751903	NM_001184.4(ATR):c.6155T>C (p.Met2052Thr)	ATR, LOC126806830 (M2052T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751839	NM_001184.4(ATR):c.6141C>T (p.Asp2047=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751800	NM_001184.4(ATR):c.6132G>A (p.Lys2044=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751651	NM_001184.4(ATR):c.6108G>A (p.Glu2036=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751633	NM_001184.4(ATR):c.6101A>G (p.Glu2034Gly)	ATR, LOC126806830 (E1970G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751631	NM_001184.4(ATR):c.6100G>C (p.Glu2034Gln)	ATR, LOC126806830 (E1970Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751540	NM_001184.4(ATR):c.6099A>G (p.Pro2033=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751538	NM_001184.4(ATR):c.6099A>C (p.Pro2033=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751537	NM_001184.4(ATR):c.6098C>T (p.Pro2033Leu)	ATR, LOC126806830 (P2033L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751533	NM_001184.4(ATR):c.6097C>G (p.Pro2033Ala)	ATR, LOC126806830 (P1969A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751508	NM_001184.4(ATR):c.6090G>T (p.Ala2030=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751507	NM_001184.4(ATR):c.6090G>C (p.Ala2030=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1749737	NM_001184.4(ATR):c.57C>A (p.Gly19=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1747964	NM_001184.4(ATR):c.54G>C (p.Leu18=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1741799	NM_001184.4(ATR):c.45G>A (p.Leu15=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1734074	NM_001184.4(ATR):c.36C>T (p.Ile12=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1652298	NM_001184.4(ATR):c.24G>A (p.Leu8=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1517128	NM_001184.4(ATR):c.59+5G>C	LOC129937703, ATR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1510107	NM_001184.4(ATR):c.34A>G (p.Ile12Val)	ATR, LOC129937703 (I12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506924	NM_001184.4(ATR):c.31A>G (p.Met11Val)	ATR, LOC129937703 (M11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1488139	NM_001184.4(ATR):c.6221+17C>T	LOC126806830, ATR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486019	NM_001184.4(ATR):c.6211C>T (p.His2071Tyr)	ATR, LOC126806830 (H2007Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422486	NM_001184.4(ATR):c.6088G>A (p.Ala2030Thr)	ATR, LOC126806830 (A2030T +1 more)	Single nucleotide variant (missense variant)	ATR-related condition +1 more	GUncertain significance
Select item 1401674	NM_001184.4(ATR):c.33G>A (p.Met11Ile)	ATR, LOC129937703 (M11I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331050	NM_001184.4(ATR):c.151+9C>T	ATR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219995	NM_001184.4(ATR):c.6079-220T>C	ATR, LOC126806830	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211832	NM_001184.4(ATR):c.6079-232C>T	ATR, LOC126806830	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203101	NM_001184.4(ATR):c.6221+234A>G	ATR, LOC126806830	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132184	NM_001184.4(ATR):c.6079-9T>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1103292	NM_001184.4(ATR):c.6183A>G (p.Gln2061=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1102957	NM_001184.4(ATR):c.6153C>T (p.Pro2051=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1098629	NM_001184.4(ATR):c.6089C>T (p.Ala2030Val)	ATR, LOC126806830 (A1966V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1061375	NM_001184.4(ATR):c.6097C>T (p.Pro2033Ser)	ATR, LOC126806830 (P1969S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059182	NM_001184.4(ATR):c.59+7C>T	ATR, LOC129937703	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1026211	NM_001184.4(ATR):c.6196C>T (p.Arg2066Trp)	ATR, LOC126806830 (R2002W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1017213	NM_001184.4(ATR):c.6204A>G (p.Ile2068Met)	ATR, LOC126806830 (I2004M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 957628	NM_001184.4(ATR):c.6205G>A (p.Val2069Ile)	ATR, LOC126806830 (V2069I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931291	NM_001184.4(ATR):c.7408A>G (p.Ile2470Val)	ATR (I2470V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GUncertain significance
Select item 899878	NM_001184.4(ATR):c.6079-6T>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	Seckel syndrome 1	GUncertain significance
Select item 899877	NM_001184.4(ATR):c.6198G>C (p.Arg2066=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 813558	NM_001184.4(ATR):c.3566C>T (p.Pro1189Leu)	ATR (P1189L +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 809552	NM_001184.4(ATR):c.6319+2T>C	ATR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 809551	NM_001184.4(ATR):c.7761+2T>C	ATR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 700413	NM_001184.4(ATR):c.6126T>C (p.Leu2042=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +5 more	GLikely benign
Select item 696205	NM_001184.4(ATR):c.6087C>T (p.Thr2029=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 343630	NM_001184.4(ATR):c.59+4G>A	ATR, LOC129937703	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343595	NM_001184.4(ATR):c.6079-14G>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	Seckel syndrome 1	GUncertain significance
Select item 343594	NM_001184.4(ATR):c.6090G>A (p.Ala2030=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	ATR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 343593	NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln)	LOC126806830, ATR (R2066Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 343592	NM_001184.4(ATR):c.6221+3G>A	ATR, LOC126806830	Single nucleotide variant (intron variant)	ATR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 235288	NM_001184.4(ATR):c.5739-14_5739-7del	ATR	Deletion (intron variant)	not provided	GUncertain significance

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Items: 80