ClinVar for Gene (Select 5810) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150991	NM_002853.4(RAD1):c.7C>T (p.Leu3Phe)	RAD1, TTC23L (L3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150988	NM_002853.4(RAD1):c.730C>T (p.Arg244Trp)	RAD1, TTC23L (R244W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150987	NM_002853.4(RAD1):c.487C>G (p.Leu163Val)	RAD1, TTC23L (L163V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150985	NM_002853.4(RAD1):c.273C>G (p.Asp91Glu)	RAD1, TTC23L (D91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 3057114	NM_002853.4(RAD1):c.842A>G (p.Glu281Gly)	RAD1, TTC23L (E281G)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GBenign
Select item 3053113	NM_002853.4(RAD1):c.199-4A>G	RAD1, TTC23L	Single nucleotide variant (intron variant)	RAD1-related disorder	GLikely benign
Select item 3051774	NM_002853.4(RAD1):c.666-10del	RAD1, TTC23L	Deletion (intron variant)	RAD1-related disorder	GLikely benign
Select item 3042313	NM_002853.4(RAD1):c.519G>A (p.Thr173=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant +1 more)	RAD1-related disorder	GLikely benign
Select item 3042033	NM_002853.4(RAD1):c.311C>G (p.Thr104Ser)	RAD1, TTC23L (T104S)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GBenign
Select item 3041897	NM_002853.4(RAD1):c.279A>G (p.Leu93=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant)	RAD1-related disorder	GLikely benign
Select item 3039861	NM_002853.4(RAD1):c.608A>G (p.Tyr203Cys)	RAD1, TTC23L (Y203C)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GLikely benign
Select item 3039630	NM_002853.4(RAD1):c.666-9C>G	RAD1, TTC23L	Single nucleotide variant (intron variant)	RAD1-related disorder	GBenign
Select item 3037412	NM_002853.4(RAD1):c.341G>A (p.Gly114Asp)	RAD1, TTC23L (G114D)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GBenign
Select item 3032386	NM_002853.4(RAD1):c.799G>C (p.Val267Leu)	RAD1, TTC23L (V267L)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2633857	NM_002853.4(RAD1):c.326G>A (p.Arg109Gln)	RAD1, TTC23L (R109Q)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 2633652	NM_002853.4(RAD1):c.325C>T (p.Arg109Ter)	RAD1, TTC23L (R109*)	Single nucleotide variant (nonsense +1 more)	RAD1-related disorder	GUncertain significance
Select item 2631971	NM_002853.4(RAD1):c.467T>C (p.Ile156Thr)	RAD1, TTC23L (I156T)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 2615107	NM_002853.4(RAD1):c.403A>C (p.Asn135His)	RAD1, TTC23L (N135H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532748	NM_002853.4(RAD1):c.491G>A (p.Arg164His)	RAD1, TTC23L (R164H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517197	NM_002853.4(RAD1):c.607T>G (p.Tyr203Asp)	RAD1, TTC23L (Y203D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489740	NM_002853.4(RAD1):c.518C>G (p.Thr173Arg)	RAD1, TTC23L (T173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 2405690	NM_002853.4(RAD1):c.551A>T (p.Asp184Val)	RAD1, TTC23L (D184V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402724	NM_002853.4(RAD1):c.790A>G (p.Ile264Val)	RAD1, TTC23L (I264V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398464	NM_002853.4(RAD1):c.244T>C (p.Phe82Leu)	RAD1, TTC23L (F82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393221	NM_002853.4(RAD1):c.149A>G (p.Lys50Arg)	RAD1, TTC23L (K50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244909	NM_002853.4(RAD1):c.374A>G (p.Glu125Gly)	RAD1, TTC23L (E125G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236327	NM_002853.4(RAD1):c.422A>G (p.Glu141Gly)	RAD1, TTC23L (E141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214979	NM_002853.4(RAD1):c.521G>A (p.Ser174Asn)	RAD1, TTC23L (S174N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1433583	NC_000005.9:g.(?_33944753)_(35089722_?)dup	AGXT2, AMACR +8 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1411822	NC_000005.9:g.(?_34007858)_(34935958_?)dup	C1QTNF3, AMACR +5 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 762522	NM_002853.4(RAD1):c.783T>C (p.Asp261=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
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 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 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
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 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55