LOC129931144[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3313195	NM_022768.5(RBM15):c.19G>A (p.Asp7Asn)	LOC129931144, RBM15 (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152200	NM_022768.5(RBM15):c.29C>T (p.Pro10Leu)	LOC129931144, RBM15 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215873	NM_022768.5(RBM15):c.32G>A (p.Arg11Gln)	LOC129931144, RBM15 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297745	NM_022768.5(RBM15):c.49C>T (p.Arg17Trp)	LOC129931144, RBM15 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387833	NM_022768.5(RBM15):c.61C>T (p.Pro21Ser)	LOC129931144, RBM15 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233108	NM_022768.5(RBM15):c.65T>A (p.Leu22Gln)	LOC129931144, RBM15 (L22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152202	NM_022768.5(RBM15):c.73A>G (p.Thr25Ala)	LOC129931144, RBM15 (T25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206185	NM_022768.5(RBM15):c.74C>G (p.Thr25Arg)	LOC129931144, RBM15 (T25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316768	NM_022768.5(RBM15):c.89G>A (p.Arg30Gln)	LOC129931144, RBM15 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152193	NM_022768.5(RBM15):c.104G>A (p.Arg35His)	LOC129931144, RBM15 (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597257	NM_022768.5(RBM15):c.157G>C (p.Val53Leu)	LOC129931144, RBM15 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance