"RINT1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241409	NM_021930.6(RINT1):c.43-12TTC[2]	RINT1	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 403377	NM_021930.6(RINT1):c.118A>T (p.Ser40Cys)	RINT1 (S40C +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile liver failure syndrome 3 +3 more	GBenign
Select item 416387	NM_021930.6(RINT1):c.375T>C (p.Thr125=)	RINT1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 403378	NM_021930.6(RINT1):c.414G>A (p.Ala138=)	RINT1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 416394	NM_021930.6(RINT1):c.465C>T (p.Ile155=)	RINT1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 241414	NM_021930.6(RINT1):c.732C>T (p.Ile244=)	RINT1	Single nucleotide variant (synonymous variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 416378	NM_021930.6(RINT1):c.840-5G>A	RINT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 224922	NM_021930.6(RINT1):c.1025T>C (p.Met342Thr)	RINT1 (M342T +3 more)	Single nucleotide variant (missense variant +2 more)	RINT1-related disorder +2 more	GBenign
Select item 224930	NM_021930.6(RINT1):c.1374T>C (p.Ala458=)	RINT1	Single nucleotide variant (synonymous variant +1 more)	RINT1-related disorder +2 more	GBenign
Select item 224933	NM_021930.6(RINT1):c.1978C>A (p.Leu660Ile)	RINT1, EFCAB10 (L660I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 241401	NM_021930.6(RINT1):c.2003T>C (p.Phe668Ser)	EFCAB10, RINT1 (F668S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 241403	NM_001355526.2(EFCAB10):c.384-16A>T	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 241404	NM_021930.6(RINT1):c.2136T>C (p.Leu712=)	EFCAB10, RINT1 (K134R)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GLikely benign
Select item 224921	NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu)	EFCAB10, RINT1 (P759L +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 224935	NM_021930.6(RINT1):c.2370T>C (p.Thr790=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	RINT1-related disorder +2 more	GBenign