ROR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 1235539	NM_005012.4(ROR1):c.-24G>A	ROR1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2812612	NM_005012.4(ROR1):c.9G>A (p.Arg3=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323769	NM_005012.4(ROR1):c.14G>T (p.Arg5Leu)	ROR1 (R5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2964495	NM_005012.4(ROR1):c.16C>A (p.Arg6Ser)	ROR1 (R6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933914	NM_005012.4(ROR1):c.23G>A (p.Gly8Glu)	ROR1 (G8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061856	NM_005012.4(ROR1):c.34C>T (p.Pro12Ser)	ROR1 (P12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509071	NM_005012.4(ROR1):c.52_63dup (p.Ala18_Leu21dup)	ROR1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2975684	NM_005012.4(ROR1):c.54C>T (p.Ala18=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257395	NM_005012.4(ROR1):c.74G>A (p.Arg25His)	ROR1 (R25H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1647648	NM_005012.4(ROR1):c.91+8G>T	ROR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268836	NM_005012.4(ROR1):c.91+61C>T	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151186	GRCh38/hg38 1p31.3(chr1:63873863-64333572)x1	LOC112590815, LOC121725028 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1238957	NM_005012.4(ROR1):c.92-173C>T	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260821	NM_005012.4(ROR1):c.92-56A>G	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2713771	NM_005012.4(ROR1):c.102G>A (p.Leu34=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550512	NM_005012.4(ROR1):c.124C>T (p.Pro42Ser)	ROR1 (P42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206763	NM_005012.4(ROR1):c.125C>T (p.Pro42Leu)	ROR1 (P42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471609	NM_005012.4(ROR1):c.125C>G (p.Pro42Arg)	ROR1 (P42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749573	NM_005012.4(ROR1):c.163+1G>A	ROR1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1585811	NM_005012.4(ROR1):c.163+11G>T	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599733	NM_005012.4(ROR1):c.164-8G>T	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240716	NM_005012.4(ROR1):c.180C>T (p.Leu60=)	ROR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1574543	NM_005012.4(ROR1):c.207G>A (p.Thr69=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2722209	NM_005012.4(ROR1):c.211C>G (p.Leu71Val)	ROR1 (L71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841904	NM_005012.4(ROR1):c.255A>T (p.Pro85=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901002	NM_005012.4(ROR1):c.269G>A (p.Arg90His)	ROR1 (R90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048488	NM_005012.4(ROR1):c.294G>A (p.Val98=)	ROR1	Single nucleotide variant (synonymous variant)	ROR1-related condition	GLikely benign
Select item 2962110	NM_005012.4(ROR1):c.323G>A (p.Arg108Gln)	ROR1 (R108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368600	NM_005012.4(ROR1):c.368C>T (p.Thr123Ile)	ROR1 (T123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276857	NM_005012.4(ROR1):c.452-165dup	ROR1	Duplication (intron variant)	not provided	GBenign
Select item 2852929	NM_005012.4(ROR1):c.457C>T (p.Pro153Ser)	ROR1 (P153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639565	NM_005012.4(ROR1):c.468A>G (p.Ala156=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914827	NM_005012.4(ROR1):c.469A>G (p.Ser157Gly)	ROR1 (S157G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559716	NM_005012.4(ROR1):c.472C>T (p.Pro158Ser)	ROR1 (P158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 2980514	NM_005012.4(ROR1):c.493G>A (p.Glu165Lys)	ROR1 (E165K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872093	NM_005012.4(ROR1):c.495AGA[1] (p.Glu166del)	ROR1 (E166del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2261690	NM_005012.4(ROR1):c.499G>T (p.Asp167Tyr)	ROR1 (D167Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512838	NM_005012.4(ROR1):c.526A>G (p.Ile176Val)	ROR1 (I176V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2251078	NM_005012.4(ROR1):c.545T>C (p.Ile182Thr)	ROR1 (I182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923488	NM_005012.4(ROR1):c.553C>A (p.Arg185Ser)	ROR1 (R185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606677	NM_005012.4(ROR1):c.569A>G (p.Glu190Gly)	ROR1 (E190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1636874	NM_005012.4(ROR1):c.610+14A>G	ROR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588113	NM_005012.4(ROR1):c.610+16G>T	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242767	NM_005012.4(ROR1):c.610+52G>A	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2853283	NM_005012.4(ROR1):c.615C>G (p.Ala205=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049205	NM_005012.4(ROR1):c.619A>C (p.Thr207Pro)	ROR1 (T207P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083642	NM_005012.4(ROR1):c.630C>T (p.Gly210=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271985	NM_005012.4(ROR1):c.698C>T (p.Pro233Leu)	ROR1 (P233L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2704403	NM_005012.4(ROR1):c.702C>T (p.Tyr234=)	ROR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2698578	NM_005012.4(ROR1):c.705C>T (p.Cys235=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987999	NM_005012.4(ROR1):c.748G>A (p.Asp250Asn)	ROR1 (D250N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495974	NM_005012.4(ROR1):c.765G>A (p.Leu255=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021304	NM_005012.4(ROR1):c.814A>G (p.Met272Val)	ROR1 (M272V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2272866	NM_005012.4(ROR1):c.869G>A (p.Ser290Asn)	ROR1 (S290N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1507172	NM_005012.4(ROR1):c.881C>T (p.Ala294Val)	ROR1 (A294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671239	NM_005012.4(ROR1):c.882G>A (p.Ala294=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976573	NM_005012.4(ROR1):c.884A>G (p.Asn295Ser)	ROR1 (N295S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905223	NM_005012.4(ROR1):c.929-13G>A	ROR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3032038	NM_005012.4(ROR1):c.929-7T>C	ROR1	Single nucleotide variant (intron variant)	ROR1-related condition	GLikely benign
Select item 2891184	NM_005012.4(ROR1):c.965G>A (p.Arg322Gln)	ROR1 (R322Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990129	NM_005012.4(ROR1):c.972C>T (p.Thr324=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392706	NM_005012.4(ROR1):c.973G>A (p.Val325Ile)	ROR1 (V325I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1577843	NM_005012.4(ROR1):c.981G>C (p.Val327=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015487	NM_005012.4(ROR1):c.983C>G (p.Thr328Ser)	ROR1 (T328S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959720	NM_005012.4(ROR1):c.995G>T (p.Arg332Leu)	ROR1 (R332L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169454	NM_005012.4(ROR1):c.995G>A (p.Arg332His)	ROR1 (R332H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916514	NM_005012.4(ROR1):c.1008A>G (p.Pro336=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2036647	NM_005012.4(ROR1):c.1019A>G (p.Gln340Arg)	ROR1 (Q340R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586409	NM_005012.4(ROR1):c.1044C>T (p.Thr348=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1434191	NM_005012.4(ROR1):c.1045G>A (p.Ala349Thr)	ROR1 (A349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356636	NM_005012.4(ROR1):c.1052G>A (p.Arg351His)	ROR1 (R351H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899792	NM_005012.4(ROR1):c.1141T>A (p.Phe381Ile)	ROR1 (F381I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788763	NM_005012.4(ROR1):c.1155G>A (p.Leu385=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1284154	NM_005012.4(ROR1):c.1170G>T (p.Ala390=)	ROR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1260266	NM_005012.4(ROR1):c.1174+90G>A	ROR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1294931	NM_005012.4(ROR1):c.1174+230A>G	ROR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1226290	NM_005012.4(ROR1):c.1175-52G>A	ROR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1533303	NM_005012.4(ROR1):c.1194G>A (p.Glu398=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899126	NM_005012.4(ROR1):c.1202A>G (p.Lys401Arg)	ROR1 (K401R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555016	NM_005012.4(ROR1):c.1252A>G (p.Ile418Val)	ROR1 (I418V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990114	NM_005012.4(ROR1):c.1253T>C (p.Ile418Thr)	ROR1 (I418T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189957	NM_005012.4(ROR1):c.1279G>A (p.Val427Ile)	ROR1 (V427I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940381	NM_005012.4(ROR1):c.1286G>A (p.Arg429Gln)	ROR1 (R429Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054526	NM_005012.4(ROR1):c.1307C>T (p.Ser436Leu)	ROR1 (S436L)	Single nucleotide variant (missense variant)	ROR1-related condition +1 more	GLikely benign
Select item 1633530	NM_005012.4(ROR1):c.1308G>A (p.Ser436=)	ROR1	Single nucleotide variant (synonymous variant)	ROR1-related condition +1 more	GLikely benign
Select item 2765929	NM_005012.4(ROR1):c.1315G>A (p.Val439Ile)	ROR1 (V439I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594346	NM_005012.4(ROR1):c.1335C>T (p.His445=)	ROR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1260721	NM_005012.4(ROR1):c.1353A>G (p.Val451=)	ROR1	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive 108 +1 more	GBenign
Select item 1647252	NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp)	ROR1 (E452D)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 108 +1 more	GLikely benign

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