30134[HGNC] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 155206	GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1	ALOX15, GGT6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2647267	NM_014389.3(PELP1):c.3009C>T (p.Pro1003=)	PELP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2405273	NM_014389.3(PELP1):c.2854G>A (p.Glu952Lys)	PELP1 (E805K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211392	NM_014389.3(PELP1):c.2848G>A (p.Asp950Asn)	PELP1 (D803N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647268	NM_014389.3(PELP1):c.2691AGA[3] (p.Glu908del)	PELP1 (E761del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2480730	NM_014389.3(PELP1):c.2662G>A (p.Glu888Lys)	PELP1 (E741K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603645	NM_014389.3(PELP1):c.2447C>T (p.Pro816Leu)	PELP1 (P669L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647269	NM_014389.3(PELP1):c.2361C>T (p.Ser787=)	PELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3305764	NM_014389.3(PELP1):c.2360G>A (p.Ser787Asn)	PELP1 (S640N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595525	NM_014389.3(PELP1):c.2246C>T (p.Thr749Ile)	PELP1 (T602I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206202	NM_014389.3(PELP1):c.2237C>T (p.Pro746Leu)	PELP1 (P599L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389176	NM_014389.3(PELP1):c.2114C>G (p.Thr705Arg)	PELP1 (T705R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647270	NM_014389.3(PELP1):c.2052_2069dup (p.Pro694_Val695insMetProSerAlaGlyPro)	PELP1	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2613046	NM_014389.3(PELP1):c.2045C>A (p.Pro682His)	PELP1 (P682H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354830	NM_014389.3(PELP1):c.2042G>A (p.Gly681Asp)	PELP1 (G534D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305770	NM_014389.3(PELP1):c.1967C>T (p.Ala656Val)	PELP1 (A656V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560296	NM_014389.3(PELP1):c.1954C>T (p.Pro652Ser)	PELP1 (P652S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484775	NM_014389.3(PELP1):c.1807C>T (p.Gln603Ter)	PELP1 (Q456* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3211389	NM_014389.3(PELP1):c.1768C>T (p.Pro590Ser)	PELP1 (P590S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484774	NM_014389.3(PELP1):c.1759C>T (p.Leu587=)	PELP1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1174096	NM_014389.3(PELP1):c.1664del (p.Leu555fs)	PELP1 (L408fs +1 more)	Deletion (frameshift variant)	Global developmental delay	GUncertain significance
Select item 3305766	NM_014389.3(PELP1):c.1477G>A (p.Ala493Thr)	PELP1 (A346T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318020	NM_014389.3(PELP1):c.971T>G (p.Leu324Arg)	PELP1 (L177R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211387	NM_014389.3(PELP1):c.901G>A (p.Glu301Lys)	PELP1 (E301K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305765	NM_014389.3(PELP1):c.587T>C (p.Leu196Ser)	PELP1 (L196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384990	NM_014389.3(PELP1):c.518C>G (p.Ser173Cys)	PELP1 (S26C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406034	NM_014389.3(PELP1):c.472C>T (p.Leu158Phe)	PELP1 (L11F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211393	NM_014389.3(PELP1):c.329G>C (p.Cys110Ser)	PELP1 (C110S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211390	NM_014389.3(PELP1):c.60G>C (p.Gly20=)	PELP1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3305767	NM_014389.3(PELP1):c.41C>T (p.Ala14Val)	PELP1 (A14V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356817	NM_014389.3(PELP1):c.4G>A (p.Ala2Thr)	PELP1 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3211394	NM_014389.2(PELP1):c.70C>G (p.Pro24Ala)	PELP1 (P24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 1526562	GRCh37/hg19 17p13.2(chr17:4475016-4648525)	ALOX15, ARRB2 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815897	GRCh37/hg19 17p13.2(chr17:4245304-4581861)x3	PELP1, SMTNL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815896	GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3	GGT6, MYBBP1A +9 more	Copy number gain	not provided	GUncertain significance
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	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
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 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: 65