RAD17[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3150996	NM_133338.3(RAD17):c.-198G>T	RAD17 (R7I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3150998	NM_133338.3(RAD17):c.-183C>T	RAD17 (S12F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2603245	NM_133338.3(RAD17):c.149T>C (p.Phe50Ser)	RAD17 (F50S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483581	NM_133338.3(RAD17):c.211A>G (p.Lys71Glu)	RAD17 (K71E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312266	NM_133338.3(RAD17):c.280G>A (p.Val94Met)	RAD17 (V8M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529356	NM_133338.3(RAD17):c.316T>A (p.Leu106Ile)	RAD17 (L117I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244707	NM_133338.3(RAD17):c.322G>C (p.Ala108Pro)	RAD17 (A119P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312264	NM_133338.3(RAD17):c.334G>A (p.Glu112Lys)	RAD17 (E123K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264453	NM_133338.3(RAD17):c.370A>G (p.Ile124Val)	RAD17 (I135V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312267	NM_133338.3(RAD17):c.476A>G (p.Gln159Arg)	RAD17 (Q73R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524777	NM_133338.3(RAD17):c.506C>G (p.Thr169Ser)	RAD17 (T83S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593336	NM_133338.3(RAD17):c.731T>C (p.Ile244Thr)	RAD17 (I244T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538536	NM_133338.3(RAD17):c.743C>T (p.Ser248Leu)	RAD17 (S162L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404262	NM_133338.3(RAD17):c.830A>G (p.Asn277Ser)	RAD17 (N191S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225979	NM_133338.3(RAD17):c.833C>T (p.Pro278Leu)	RAD17 (P113L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524176	NM_133338.3(RAD17):c.869G>A (p.Arg290Gln)	RAD17 (R125Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312268	NM_133338.3(RAD17):c.889A>C (p.Asn297His)	RAD17 (N132H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150999	NM_133338.3(RAD17):c.931C>G (p.Leu311Val)	RAD17 (L311V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312263	NM_133338.3(RAD17):c.1039A>G (p.Met347Val)	RAD17 (M347V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479557	NM_133338.3(RAD17):c.1060G>A (p.Val354Met)	RAD17 (V189M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476206	NM_133338.3(RAD17):c.1289T>A (p.Met430Lys)	RAD17 (M265K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238282	NM_133338.3(RAD17):c.1297A>G (p.Met433Val)	RAD17 (M268V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527229	NM_133338.3(RAD17):c.1417T>C (p.Trp473Arg)	RAD17 (W484R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458413	NM_133338.3(RAD17):c.1426C>T (p.Arg476Cys)	RAD17 (R390C +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150992	NM_133338.3(RAD17):c.1430C>G (p.Ser477Cys)	RAD17 (S477C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150993	NM_133338.3(RAD17):c.1526G>A (p.Ser509Asn)	RAD17 (S344N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560290	NM_133338.3(RAD17):c.1577G>A (p.Arg526Gln)	RAD17 (R526Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403359	NM_133338.3(RAD17):c.1593A>G (p.Ala531=)	RAD17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2516290	NM_133338.3(RAD17):c.1636C>T (p.Leu546Phe)	RAD17 (L557F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312265	NM_133338.3(RAD17):c.1642A>T (p.Thr548Ser)	RAD17 (T383S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367737	NM_133338.3(RAD17):c.1651T>A (p.Leu551Met)	RAD17 (L551M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597542	NM_133338.3(RAD17):c.1694C>T (p.Ala565Val)	RAD17 (A565V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150995	NM_133338.3(RAD17):c.1718T>C (p.Ile573Thr)	RAD17 (I408T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297721	NM_133338.3(RAD17):c.1880C>T (p.Pro627Leu)	RAD17 (P462L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311721	NM_133338.3(RAD17):c.1984A>T (p.Ile662Leu)	RAD17 (I576L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 393584	GRCh37/hg19 5q13.2(chr5:68728731-68849653)x3	GTF2H2C, MARVELD2 +7 more	Copy number gain	not specified	GLikely benign

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Items: 51