ClinVar for Gene (Select 6096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381499	NM_006914.4(RORB):c.783A>C (p.Gln261His)	RORB (Q261H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376020	NM_006914.4(RORB):c.1A>G (p.Met1Val)	RORB, RORB-AS1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3375773	NM_006914.4(RORB):c.111C>G (p.Ser37Arg)	RORB (S37R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370284	NM_006914.4(RORB):c.1112-1G>C	RORB	Single nucleotide variant (splice acceptor variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GLikely pathogenic
Select item 3369142	NM_006914.4(RORB):c.167G>A (p.Arg56Lys)	RORB (R56K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368602	NM_006914.4(RORB):c.207G>T (p.Lys69Asn)	RORB (K69N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368281	NM_006914.4(RORB):c.1313T>C (p.Val438Ala)	LOC124310566, RORB (V438A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367377	NM_006914.4(RORB):c.925C>T (p.Arg309Cys)	RORB (R309C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366206	NM_006914.4(RORB):c.187C>G (p.Gln63Glu)	RORB (Q63E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365496	NM_006914.4(RORB):c.195C>G (p.Cys65Trp)	RORB (C65W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364667	NM_006914.4(RORB):c.1361G>A (p.Cys454Tyr)	LOC124310566, RORB (C454Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363671	NM_006914.4(RORB):c.1290del (p.Phe430fs)	LOC124310566, RORB (F430fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3363344	NM_006914.4(RORB):c.1121G>A (p.Trp374Ter)	RORB (W374* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337457	NM_006914.4(RORB):c.435_439dup (p.Ile147fs)	RORB (I147fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3315050	NM_006914.4(RORB):c.1336T>C (p.Tyr446His)	LOC124310566, RORB (Y446H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3237176	NM_006914.4(RORB):c.1224G>A (p.Lys408=)	RORB	Single nucleotide variant (synonymous variant)	Seizure	GLikely pathogenic
Select item 3063092	GRCh37/hg19 9q21.13(chr9:77207687-77327357)x3	RORB	Copy number gain	not specified	GUncertain significance
Select item 3063084	GRCh37/hg19 9q21.13(chr9:76897502-78586137)x3	C9orf40, CARNMT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3041940	NM_006914.4(RORB):c.8-14688G>A	RORB	Single nucleotide variant (5 prime UTR variant +1 more)	RORB-related disorder	GLikely benign
Select item 3026237	NM_006914.4(RORB):c.893-7C>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022571	NM_006914.4(RORB):c.1309A>G (p.Ile437Val)	RORB, LOC124310566 (I448V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015341	NM_006914.4(RORB):c.804C>G (p.His268Gln)	RORB (H279Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012008	NM_006914.4(RORB):c.236-11C>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010677	NM_006914.4(RORB):c.327G>A (p.Gln109=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006741	NM_006914.4(RORB):c.983A>C (p.Gln328Pro)	RORB (Q328P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005610	NM_006914.4(RORB):c.1251G>A (p.Thr417=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004290	NM_006914.4(RORB):c.430G>C (p.Gly144Arg)	RORB (G155R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001315	NM_006914.4(RORB):c.893-43_893-2del	RORB	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 3000257	NM_006914.4(RORB):c.893-16T>C	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996363	NM_006914.4(RORB):c.1284G>A (p.Gln428=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986934	NM_006914.4(RORB):c.588C>A (p.Ser196Arg)	RORB (S196R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986852	NM_006914.4(RORB):c.1333T>C (p.Leu445=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986187	NM_006914.4(RORB):c.566T>C (p.Val189Ala)	RORB (V200A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970036	NM_006914.4(RORB):c.312G>T (p.Leu104=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967310	NM_006914.4(RORB):c.892+15T>A	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955888	NM_006914.4(RORB):c.1039A>G (p.Lys347Glu)	RORB (K347E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900966	NM_006914.4(RORB):c.522A>G (p.Gly174=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898304	NM_006914.4(RORB):c.126T>C (p.Ala42=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895843	NM_006914.4(RORB):c.1065C>T (p.Thr355=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888231	NM_006914.4(RORB):c.760-6_760-4del	RORB	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2880906	NM_006914.4(RORB):c.892+9G>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879559	NM_006914.4(RORB):c.1287A>G (p.Val429=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877922	NM_006914.4(RORB):c.816C>T (p.Tyr272=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876810	NM_006914.4(RORB):c.1284G>C (p.Gln428His)	LOC124310566, RORB (Q439H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874375	NM_006914.4(RORB):c.16G>C (p.Glu6Gln)	RORB (E17Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872791	NM_006914.4(RORB):c.374G>A (p.Ser125Asn)	RORB (S125N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871764	NM_006914.4(RORB):c.435C>T (p.His145=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870926	NM_006914.4(RORB):c.414C>T (p.Ser138=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864839	NM_006914.4(RORB):c.1215del (p.Leu406fs)	RORB (L417fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2861948	NM_006914.4(RORB):c.760-12dup	RORB	Duplication (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2861264	NM_006914.4(RORB):c.1000+16A>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860659	NM_006914.4(RORB):c.94-9T>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855206	NM_006914.4(RORB):c.113A>G (p.Gln38Arg)	RORB (Q38R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854266	NM_006914.4(RORB):c.197G>C (p.Arg66Pro)	RORB (R77P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851872	NM_006914.4(RORB):c.759+13A>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842241	NM_006914.4(RORB):c.1224+3A>T	RORB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2838700	NM_006914.4(RORB):c.674A>G (p.Glu225Gly)	RORB (E236G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838413	NM_006914.4(RORB):c.347_359del (p.Glu116fs)	RORB (E116fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836706	NM_006914.4(RORB):c.1001-19T>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835700	NM_006914.4(RORB):c.488C>T (p.Pro163Leu)	RORB (P163L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834207	NM_006914.4(RORB):c.638-8T>C	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833855	NM_006914.4(RORB):c.1007A>G (p.Asp336Gly)	RORB (D336G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831732	NM_006914.4(RORB):c.1094C>A (p.Ala365Asp)	RORB (A365D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831046	NM_006914.4(RORB):c.7+15G>C	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830166	NM_006914.4(RORB):c.564del (p.Val189fs)	RORB (V200fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2829855	NM_006914.4(RORB):c.1083G>A (p.Leu361=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825215	NM_006914.4(RORB):c.3G>C (p.Met1Ile)	RORB, RORB-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815905	NM_006914.4(RORB):c.626T>C (p.Met209Thr)	RORB (M220T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815661	NM_006914.4(RORB):c.1112-7T>C	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815128	NM_006914.4(RORB):c.759G>A (p.Lys253=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2812699	NM_006914.4(RORB):c.318_323dup (p.Gln109_Gln110insArgGln)	RORB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2810239	NM_006914.4(RORB):c.538C>T (p.Gln180Ter)	RORB (Q180* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2805873	NM_006914.4(RORB):c.432G>T (p.Gly144=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802663	NM_006914.4(RORB):c.467A>G (p.Tyr156Cys)	RORB (Y156C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802112	NM_006914.4(RORB):c.1143C>G (p.Val381=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798282	NM_006914.4(RORB):c.1224+18A>C	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795997	NM_006914.4(RORB):c.489G>A (p.Pro163=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795024	NM_006914.4(RORB):c.893-5C>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794799	NM_006914.4(RORB):c.980T>C (p.Met327Thr)	RORB (M327T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791286	NM_006914.4(RORB):c.760-4C>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789778	NM_006914.4(RORB):c.474C>T (p.Val158=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788456	NM_006914.4(RORB):c.629C>G (p.Thr210Ser)	RORB (T210S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787689	NM_006914.4(RORB):c.1279C>T (p.Leu427=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785682	NM_006914.4(RORB):c.996C>T (p.Ala332=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782127	NM_006914.4(RORB):c.1112-5A>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781582	NM_006914.4(RORB):c.123T>C (p.Asn41=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781122	NM_006914.4(RORB):c.1138A>C (p.Lys380Gln)	RORB (K380Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779642	NM_006914.4(RORB):c.429C>A (p.Asn143Lys)	RORB (N143K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778830	NM_006914.4(RORB):c.1229T>C (p.Ile410Thr)	RORB (I421T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770599	NM_006914.4(RORB):c.2T>G (p.Met1Arg)	RORB, RORB-AS1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2763874	NM_006914.4(RORB):c.637+1G>A	RORB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2759557	NM_006914.4(RORB):c.956T>G (p.Leu319Arg)	RORB (L319R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756230	NM_006914.4(RORB):c.357C>T (p.Ala119=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754515	NM_006914.4(RORB):c.637+2T>A	RORB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2750144	NM_006914.4(RORB):c.1093G>A (p.Ala365Thr)	RORB (A376T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729731	NM_006914.4(RORB):c.777G>A (p.Trp259Ter)	RORB (W259* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2729714	NM_006914.4(RORB):c.1001-11T>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718853	NM_006914.4(RORB):c.304C>T (p.Gln102Ter)	RORB (Q113* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2717701	NM_006914.4(RORB):c.429C>T (p.Asn143=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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