Related gene-specific medical variations for Gene (Select 10524) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257591	NM_182710.3(KAT5):c.1296A>G (p.Thr432=)	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257359	NM_182710.3(KAT5):c.157C>G (p.Gln53Glu)	KAT5, LOC130006059 (Q20E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239155	NM_182710.3(KAT5):c.1292A>G (p.Lys431Arg)	KAT5, RNASEH2C (K346R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236591	NM_182710.3(KAT5):c.540G>A (p.Thr180=)	KAT5	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 3112746	NM_182710.3(KAT5):c.79G>A (p.Val27Ile)	KAT5, LOC130006059 (V27I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067592	NM_182710.3(KAT5):c.1562T>C (p.Met521Thr)	KAT5, RNASEH2C (M436T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3064752	NM_182710.3(KAT5):c.1380G>A (p.Met460Ile)	KAT5, RNASEH2C (M375I +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 2641967	NM_182710.3(KAT5):c.129C>T (p.Gly43=)	KAT5, LOC130006059	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636040	NM_182710.3(KAT5):c.95T>A (p.Val32Asp)	KAT5, LOC130006059 (V32D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2627862	NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr)	KAT5, RNASEH2C (S456T +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2620022	NM_182710.3(KAT5):c.1533G>C (p.Glu511Asp)	KAT5, RNASEH2C (E478D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572340	NM_182710.3(KAT5):c.1534G>A (p.Asp512Asn)	KAT5, RNASEH2C (D427N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2490195	NM_182710.3(KAT5):c.49G>T (p.Gly17Trp)	KAT5, LOC130006059 (G17W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342700	NM_182710.3(KAT5):c.1400G>C (p.Gly467Ala)	KAT5, RNASEH2C (G382A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280727	NM_182710.3(KAT5):c.1564C>A (p.Leu522Ile)	KAT5, RNASEH2C (L437I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2168724	NM_182710.3(KAT5):c.128G>C (p.Gly43Ala)	KAT5, LOC130006059 (G10A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878887	NM_032193.4(RNASEH2C):c.*1115C>T	KAT5, RNASEH2C (R363Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679578	NM_182710.3(KAT5):c.690+7C>T	KAT5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1526175	NM_182710.3(KAT5):c.1369G>A (p.Glu457Lys)	KAT5, RNASEH2C (E372K +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1334728	NM_182710.3(KAT5):c.1568A>G (p.Lys523Arg)	KAT5, RNASEH2C (K438R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319631	NM_032193.4(RNASEH2C):c.*1033C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 987966	NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala)	KAT5, RNASEH2C (S413A +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
Select item 880429	NM_032193.4(RNASEH2C):c.*572C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880428	NM_032193.4(RNASEH2C):c.*1007C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 879241	NM_032193.4(RNASEH2C):c.*1378G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 879240	NM_032193.4(RNASEH2C):c.*1532G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 878691	NM_032193.4(RNASEH2C):c.*295C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 878690	NM_032193.4(RNASEH2C):c.*310C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 878689	NM_032193.4(RNASEH2C):c.*317C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 878642	NM_032193.4(RNASEH2C):c.*1699G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 877674	NM_032193.4(RNASEH2C):c.*374T>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305354	NM_032193.4(RNASEH2C):c.*223G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305353	NM_032193.4(RNASEH2C):c.*363C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305352	NM_032193.4(RNASEH2C):c.*385C>A	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305351	NM_032193.4(RNASEH2C):c.*440G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305350	NM_032193.4(RNASEH2C):c.*451C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305349	NM_032193.4(RNASEH2C):c.*456G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305348	NM_032193.4(RNASEH2C):c.*532C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305347	NM_032193.4(RNASEH2C):c.*541C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305346	NM_032193.4(RNASEH2C):c.*542G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 305345	NM_032193.4(RNASEH2C):c.*560C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305344	NM_032193.4(RNASEH2C):c.*706T>A	KAT5, RNASEH2C (I428F +3 more)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305343	NM_032193.4(RNASEH2C):c.*719T>G	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305342	NM_032193.4(RNASEH2C):c.*747G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305341	NM_032193.4(RNASEH2C):c.*862A>C	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305340	NM_032193.4(RNASEH2C):c.*940A>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305339	NM_032193.4(RNASEH2C):c.*948dup	KAT5, RNASEH2C	Duplication (3 prime UTR variant +1 more)	Aicardi Goutieres syndrome +2 more	GBenign/Likely benign
Select item 305338	NM_032193.4(RNASEH2C):c.*1017G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 305337	NM_032193.4(RNASEH2C):c.*1217G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305336	NM_032193.4(RNASEH2C):c.*1295T>C	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3 +1 more	GBenign/Likely benign
Select item 305335	NM_032193.4(RNASEH2C):c.*1504G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305334	NM_032193.4(RNASEH2C):c.*1527A>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305333	NM_032193.4(RNASEH2C):c.*1594G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305332	NM_032193.4(RNASEH2C):c.*1621A>G	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305331	NM_032193.4(RNASEH2C):c.*1658G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305330	NM_032193.4(RNASEH2C):c.*1737C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305329	NM_032193.4(RNASEH2C):c.*1768C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305328	NM_032193.4(RNASEH2C):c.*1776C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305327	NM_032193.4(RNASEH2C):c.*1778C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305326	NM_032193.4(RNASEH2C):c.*1806G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305325	NM_032193.4(RNASEH2C):c.*1831G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305324	NM_032193.4(RNASEH2C):c.*1917T>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3 +1 more	GBenign
Select item 305323	NM_032193.4(RNASEH2C):c.*1977C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305322	NM_032193.4(RNASEH2C):c.*2036C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305321	NM_032193.4(RNASEH2C):c.*2097C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3 +1 more	GBenign
Select item 55934	NM_182710.3(KAT5):c.638T>G (p.Val213Gly)	KAT5 (V213G +3 more)	Single nucleotide variant (missense variant)	Familial colorectal cancer	Gnot provided

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Items: 66