GOSR1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3101015	NM_001007025.2(GOSR1):c.13A>G (p.Thr5Ala)	GOSR1 (T5A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387357	NM_001007025.2(GOSR1):c.70G>A (p.Asp24Asn)	GOSR1 (D24N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101016	NM_001007025.2(GOSR1):c.149C>A (p.Ser50Tyr)	GOSR1 (S52Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324528	NM_001007025.2(GOSR1):c.192G>C (p.Met64Ile)	GOSR1 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517386	NM_001007025.2(GOSR1):c.269C>T (p.Thr90Ile)	GOSR1 (T90I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398069	NM_001007025.2(GOSR1):c.410T>C (p.Met137Thr)	GOSR1 (M137T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550839	NM_001007025.2(GOSR1):c.427G>A (p.Asp143Asn)	GOSR1 (D145N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101017	NM_001007025.2(GOSR1):c.432T>G (p.Ile144Met)	GOSR1 (I144M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267809	NM_001007025.2(GOSR1):c.506G>A (p.Arg169Gln)	GOSR1 (R169Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408088	NM_001007025.2(GOSR1):c.595A>G (p.Ile199Val)	GOSR1 (I201V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371827	NM_001007025.2(GOSR1):c.623A>T (p.Asn208Ile)	GOSR1 (N208I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393856	NM_001007025.2(GOSR1):c.656G>T (p.Arg219Met)	GOSR1 (R219M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342855	NM_001007025.2(GOSR1):c.677G>A (p.Arg226Gln)	GOSR1 (R228Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211384	NM_001007025.2(GOSR1):c.698G>C (p.Gly233Ala)	GOSR1 (G235A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381418	NM_001007025.2(GOSR1):c.734A>G (p.Tyr245Cys)	GOSR1 (Y182C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242851	NC_000017.10:g.(?_28524804)_(29624377_?)del	ADAP2, ATAD5 +11 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
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 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
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: 26