5914[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +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)	Inborn genetic diseases	GUncertain significance
Select item 2590553	NM_000964.4(RARA):c.50A>G (p.Asn17Ser)	RARA (N17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359721	NM_000964.4(RARA):c.58C>G (p.Pro20Ala)	RARA (P20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2610422	NM_000964.4(RARA):c.358A>G (p.Met120Val)	RARA (M115V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 771766	NM_000964.4(RARA):c.469+9C>T	RARA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724367	NM_000964.4(RARA):c.543G>A (p.Thr181=)	RARA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461263	NM_000964.4(RARA):c.824C>T (p.Thr275Met)	RARA (T270M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 191350	NM_000964.4(RARA):c.826C>T (p.Arg276Trp)	RARA (R276W +2 more)	Single nucleotide variant (missense variant)	Tretinoin response +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 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)	Inborn genetic diseases	GUncertain significance
Select item 2402687	NM_000964.4(RARA):c.1283G>T (p.Gly428Val)	RARA (G331V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622273	NM_000964.4(RARA):c.1288G>C (p.Gly430Arg)	RARA (G425R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28