LOC126862474[gene] - ClinVar - NCBI

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Items: 18

	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	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 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 153939	GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3	C1QBP, DERL2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 145540	GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3	C1QBP, DERL2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2434473	NM_002532.6(NUP88):c.585C>T (p.Asn195=)	LOC126862474, NUP88	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 4	GUncertain significance
Select item 2247933	NM_002532.6(NUP88):c.569T>G (p.Leu190Arg)	LOC126862474, NUP88 (L190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565013	NM_002532.6(NUP88):c.562G>A (p.Val188Ile)	LOC126862474, NUP88 (V188I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203261	NM_002532.6(NUP88):c.541A>T (p.Ser181Cys)	LOC126862474, NUP88 (S181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309364	NM_002532.6(NUP88):c.505A>G (p.Thr169Ala)	LOC126862474, NUP88 (T169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327052	NM_002532.6(NUP88):c.468-38G>T	LOC126862474, NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4	GBenign