RARA[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2471032	NM_000964.4(RARA):c.35G>C (p.Gly12Ala)	RARA (G12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590553	NM_000964.4(RARA):c.50A>G (p.Asn17Ser)	RARA (N17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359721	NM_000964.4(RARA):c.58C>G (p.Pro20Ala)	RARA (P20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715637	NM_000964.4(RARA):c.72C>T (p.Tyr24=)	RARA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647736	NM_000964.4(RARA):c.179-3622C>T	RARA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151649	NM_000964.4(RARA):c.332T>G (p.Phe111Cys)	RARA (F106C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610422	NM_000964.4(RARA):c.358A>G (p.Met120Val)	RARA (M115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771766	NM_000964.4(RARA):c.469+9C>T	RARA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151650	NM_000964.4(RARA):c.536C>T (p.Thr179Met)	RARA (T179M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724367	NM_000964.4(RARA):c.543G>A (p.Thr181=)	RARA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151651	NM_000964.4(RARA):c.545C>T (p.Pro182Leu)	RARA (P177L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312814	NM_000964.4(RARA):c.703T>A (p.Cys235Ser)	RARA (C138S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461263	NM_000964.4(RARA):c.824C>T (p.Thr275Met)	RARA (T270M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 191350	NM_000964.4(RARA):c.826C>T (p.Arg276Trp)	RARA (R276W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance; drug response
Select item 985591	NM_000964.4(RARA):c.827G>A (p.Arg276Gln)	RARA (R179Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 780426	NM_000964.4(RARA):c.837C>T (p.Pro279=)	RARA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2572980	NM_000964.4(RARA):c.1011A>C (p.Gly337=)	RARA	Single nucleotide variant (synonymous variant)	Mendelian syndromes with cleft lip/palate	GUncertain significance
Select item 719048	NM_000964.4(RARA):c.1013-6C>T	RARA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151647	NM_000964.4(RARA):c.1108C>T (p.Arg370Cys)	RARA (R365C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1383696	NM_000964.4(RARA):c.1181G>A (p.Arg394Gln)	RARA (R297Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191351	NM_000964.4(RARA):c.1226_*1del (p.Leu409_Ter463delinsXaa)	RARA	Deletion (stop lost)	Tretinoin response	Gdrug response
Select item 2607650	NM_000964.4(RARA):c.1273G>A (p.Gly425Arg)	RARA (G328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402687	NM_000964.4(RARA):c.1283G>T (p.Gly428Val)	RARA (G331V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622273	NM_000964.4(RARA):c.1288G>C (p.Gly430Arg)	RARA (G425R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745170	NM_000964.4(RARA):c.1299C>T (p.Asp433=)	RARA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487770	NM_000964.4(RARA):c.1306G>A (p.Gly436Ser)	RARA (G431S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312815	NM_000964.4(RARA):c.1313C>T (p.Ala438Val)	RARA (A438V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151648	NM_000964.4(RARA):c.1319C>T (p.Pro440Leu)	RARA (P343L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684849	GRCh37/hg19 17q21.1-21.2(chr17:38390996-38689619)x3	CDC6, GJD3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 36