Total 11 pathogenic variants reported for Pituitary stalk interruption syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)	SNV Germline	Chr9:95447327	Conflicting classifications of pathogenicity	Gorlin syndrome Pituitary stalk interruption syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA374110646	rs_773043616	7 SubmittersRCV000817077 RCV001257287 RCV003317381 RCV002372312 RCV002507429
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)	SNV Germline	Chr9:35078656	Likely pathogenic	Fanconi anemia complementation group G Pituitary stalk interruption syndrome Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA373315251	rs_1829129603	3 SubmittersRCV001194943 RCV001257285 RCV002258150
NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter)	SNV Germline	Chr3:78633966	Pathogenic/Likely pathogenic	Pituitary stalk interruption syndrome	Criteria Provided Multiple Submitters No Conflicts	CA353651100	rs_1439248218	2 SubmittersRCV001257296
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser)	SNV Germline	Chr3:78717822	Conflicting classifications of pathogenicity	Pituitary stalk interruption syndrome Pituitary hormone deficiency, combined or isolated, 8	Criteria Provided Conflicting Classifications	CA353665177	rs_2081940708	3 SubmittersRCV001257295 RCV003224885
NM_001130969.3(NSMF):c.53C>A (p.Ser18Ter)	SNV Unknown	Chr9:137459050	Pathogenic	Pituitary stalk interruption syndrome	Criteria Provided Single Submitter	CA375772508	rs_1831038541	1 SubmittersRCV001257291
NM_003070.5(SMARCA2):c.787T>A (p.Ser263Thr)	SNV Unknown	Chr9:2039897	Likely pathogenic	Pituitary stalk interruption syndrome	Criteria Provided Single Submitter	CA372780666	rs_1819528679	1 SubmittersRCV001257301
NM_001378964.1(CDON):c.2764G>A (p.Glu922Lys)	SNV Germline	Chr11:125989646	Pathogenic	Pituitary stalk interruption syndrome	Criteria Provided Single Submitter	CA6351626	rs_769676286	1 SubmittersRCV001257286
NM_001130823.3(DNMT1):c.2858A>G (p.Asp953Gly)	SNV Unknown	Chr19:10146387	Likely pathogenic	Pituitary stalk interruption syndrome	Criteria Provided Single Submitter	CA403976161	rs_2038202226	1 SubmittersRCV001257292
NM_032551.5(KISS1R):c.710G>C (p.Arg237Pro)	SNV Germline	Chr19:920078	Likely pathogenic	Pituitary stalk interruption syndrome	Criteria Provided Single Submitter	CA402916129	rs_1302076437	1 SubmittersRCV001257277