"GeneDx"[submitter] AND "LOC100287944"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 1212621	NM_018082.6(POLR3B):c.2818-284A>G	LOC100287944, POLR3B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1219088	NM_018082.6(POLR3B):c.2818-111A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379918	NM_018082.6(POLR3B):c.2818-1G>T	LOC100287944, POLR3B	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2500373	NM_018082.6(POLR3B):c.2823del (p.Lys942fs)	LOC100287944, POLR3B (K884fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1367637	NM_018082.6(POLR3B):c.2852C>G (p.Ala951Gly)	LOC100287944, POLR3B (A951G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201888	NM_018082.6(POLR3B):c.2865C>T (p.Asp955=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 306947	NM_018082.6(POLR3B):c.2877C>T (p.His959=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1184075	NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)	LOC100287944, POLR3B (N924D +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 1214759	NM_018082.6(POLR3B):c.2984+30A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191169	NM_018082.6(POLR3B):c.2984+115G>A	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287668	NM_018082.6(POLR3B):c.2984+231dup	LOC100287944, POLR3B	Duplication (intron variant)	not provided	GBenign
Select item 1287056	NM_018082.6(POLR3B):c.2985-41A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165788	NM_018082.6(POLR3B):c.2985-18A>T	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1286626	NM_018082.6(POLR3B):c.3098+38A>C	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254858	NM_018082.6(POLR3B):c.3098+147A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215234	NM_018082.6(POLR3B):c.3098+307G>T	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274116	NM_018082.6(POLR3B):c.3099-245A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254374	NM_018082.6(POLR3B):c.3099-164T>C	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243683	NM_018082.6(POLR3B):c.3099-85C>T	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193941	NM_018082.6(POLR3B):c.3099-83C>T	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1048513	NM_018082.6(POLR3B):c.3137G>A (p.Arg1046His)	POLR3B, LOC100287944 (R1046H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +1 more	GPathogenic/Likely pathogenic
Select item 2037843	NM_018082.6(POLR3B):c.3212C>T (p.Ser1071Leu)	LOC100287944, POLR3B (S1013L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426267	NM_018082.6(POLR3B):c.3269G>T (p.Gly1090Val)	LOC100287944, POLR3B (G1090V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1199094	NM_018082.6(POLR3B):c.3272+82G>A	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221129	NM_018082.6(POLR3B):c.3272+177T>C	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213632	NM_018082.6(POLR3B):c.3272+187G>A	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218936	NM_018082.6(POLR3B):c.3273-301T>C	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2430938	NM_018082.6(POLR3B):c.3310C>G (p.Leu1104Val)	LOC100287944, POLR3B (L1046V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365703	NM_018082.6(POLR3B):c.3314G>A (p.Arg1105His)	LOC100287944, POLR3B (R1047H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419123	NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr)	LOC100287944, POLR3B (I1106T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2430558	NM_018082.6(POLR3B):c.3371C>T (p.Pro1124Leu)	LOC100287944, POLR3B (P1066L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130003	NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign
Select item 1801063	NM_213594.3(RFX4):c.199del (p.Glu67fs)	LOC100287944, RFX4 (E67fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2444655	NM_213594.3(RFX4):c.254A>G (p.His85Arg)	LOC100287944, RFX4 (H85R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311531	NM_213594.3(RFX4):c.364C>T (p.Arg122Ter)	RFX4, LOC100287944 +1 more (R122* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Items: 36