Related gene-specific medical variations for Gene (Select 129937703) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3462692	NM_001184.4(ATR):c.54G>A (p.Leu18=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3462422	NM_001184.4(ATR):c.30C>T (p.Ser10=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3331826	NM_001184.4(ATR):c.22C>G (p.Leu8Val)	ATR, LOC129937703 (L8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221200	NM_001184.4(ATR):c.51G>A (p.Glu17=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 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 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 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)	not provided +1 more	GLikely benign
Select item 1652298	NM_001184.4(ATR):c.24G>A (p.Leu8=)	ATR, LOC129937703	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1517128	NM_001184.4(ATR):c.59+5G>C	ATR, LOC129937703	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 +1 more	GUncertain significance
Select item 1506924	NM_001184.4(ATR):c.31A>G (p.Met11Val)	LOC129937703, ATR (M11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 1059182	NM_001184.4(ATR):c.59+7C>T	ATR, LOC129937703	Single nucleotide variant (intron 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 +2 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 22