Related gene-specific medical variations for Gene (Select 23426) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244435	NC_000012.11:g.(?_66838344)_(67072684_?)del	GRIP1	Deletion	not provided	GPathogenic
Select item 3244434	NC_000012.11:g.(?_66859035)_(66859222_?)del	GRIP1	Deletion	not provided	GPathogenic
Select item 3244433	NC_000012.11:g.(?_67072610)_(67072684_?)del	GRIP1	Deletion	not provided	GPathogenic
Select item 3065123	NM_001366722.1(GRIP1):c.659T>C (p.Met220Thr)	GRIP1 (M220T +2 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 2432307	NM_001366722.1(GRIP1):c.815G>T (p.Cys272Phe)	GRIP1 (C272F +2 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 1809019	GRCh37/hg19 12q14.3(chr12:66905797-66926293)x1	GRIP1	Copy number loss	not provided	GUncertain significance
Select item 931511	NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu)	GRIP1 (S757L +5 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 685193	GRCh37/hg19 12q14.3(chr12:67052762-67199592)x1	GRIP1	Copy number loss	not provided	GUncertain significance
Select item 591947	NM_001366722.1(GRIP1):c.2669_2671del (p.Phe890del)	GRIP1 (F838del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591837	NM_001366722.1(GRIP1):c.1607C>T (p.Thr536Ile)	GRIP1 (T484I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591382	NM_001366722.1(GRIP1):c.1760_1761delinsAA (p.Thr587Lys)	GRIP1 (T560K +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 563889	GRCh37/hg19 12q14.3(chr12:66956100-66996001)x1	GRIP1	Copy number loss	not provided	GUncertain significance
Select item 395459	GRCh37/hg19 12q14.3(chr12:66895380-66911133)x1	GRIP1	Copy number loss	See cases	GBenign
Select item 394117	GRCh37/hg19 12q14.3(chr12:67056832-67189777)x1	GRIP1	Copy number loss	See cases	GLikely benign
Select item 145015	GRCh38/hg38 12q14.3(chr12:66789696-66816559)x1	GRIP1	Copy number loss	See cases	GBenign
Select item 145011	GRCh38/hg38 12q14.3(chr12:66783512-66855222)x1	GRIP1	Copy number loss	See cases	GBenign