ClinVar for MedGen (Select 209236) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240211	NM_006261.5(PROP1):c.112dup (p.Ser38fs)	PROP1 (S38fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 3240210	NM_006261.5(PROP1):c.397C>T (p.Gln133Ter)	PROP1 (Q133*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 3240209	NM_006261.5(PROP1):c.546del (p.Gly183fs)	PROP1 (G183fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 2678072	NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)	PROP1 (Q190*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 2678071	NM_006261.5(PROP1):c.109+1G>A	PROP1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined, 2	GPathogenic
Select item 2678070	NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)	PROP1 (R71C)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1705572	NM_006261.5(PROP1):c.343-1G>A	PROP1	Single nucleotide variant (splice acceptor variant +1 more)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 1523184	NM_006261.5(PROP1):c.629del (p.Pro210fs)	PROP1 (P210fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GLikely pathogenic
Select item 1170828	NM_006261.5(PROP1):c.109+435G>A	PROP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165010	NM_006261.5(PROP1):c.59A>G (p.Asn20Ser)	PROP1 (N20S)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GBenign
Select item 1103167	NM_006261.5(PROP1):c.153G>C (p.Gly51=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1071125	NM_006261.5(PROP1):c.129dup (p.Arg44fs)	PROP1 (R44fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1070901	NM_006261.5(PROP1):c.63del (p.Leu22fs)	PROP1 (L22fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic
Select item 989938	NM_006261.5(PROP1):c.51C>G (p.Val17=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 989937	NM_006261.5(PROP1):c.131G>A (p.Arg44Lys)	PROP1 (R44K)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 989936	NM_006261.5(PROP1):c.249G>A (p.Gln83=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989935	NM_006261.5(PROP1):c.303T>C (p.Ser101=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 907927	NM_006261.5(PROP1):c.340C>A (p.Gln114Lys)	PROP1 (Q114K)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 906955	NM_006261.5(PROP1):c.*37C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 906954	NM_006261.5(PROP1):c.*434T>A	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 905419	NM_006261.5(PROP1):c.-160C>T	PROP1	Single nucleotide variant (5 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 905418	NM_006261.5(PROP1):c.46C>G (p.Arg16Gly)	PROP1 (R16G)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +2 more	GUncertain significance
Select item 904627	NM_006261.5(PROP1):c.156G>A (p.Gly52=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 904626	NM_006261.5(PROP1):c.197C>T (p.Pro66Leu)	PROP1 (P66L)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 792232	NM_006261.5(PROP1):c.609C>T (p.Ala203=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764481	NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)	PROP1 (R129C)	Single nucleotide variant (missense variant)	PROP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 764435	NM_006261.5(PROP1):c.234A>G (p.Pro78=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 763081	NM_006261.5(PROP1):c.624C>T (p.Cys208=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755335	NM_006261.5(PROP1):c.66G>A (p.Leu22=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748874	NM_006261.5(PROP1):c.110-8G>A	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742937	NM_006261.5(PROP1):c.152G>T (p.Gly51Val)	PROP1 (G51V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 734046	NM_006261.5(PROP1):c.81G>A (p.Pro27=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 733349	NM_006261.5(PROP1):c.311G>A (p.Arg104Gln)	PROP1 (R104Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 732957	NM_006261.5(PROP1):c.534G>A (p.Gln178=)	PROP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 631963	NM_006261.5(PROP1):c.109+1G>T	PROP1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined, 2	GPathogenic/Likely pathogenic
Select item 558722	NM_006261.5(PROP1):c.340C>T (p.Gln114Ter)	PROP1 (Q114*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557824	NM_006261.5(PROP1):c.611del (p.Gly204fs)	PROP1 (G204fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GConflicting classifications of pathogenicity
Select item 557723	NM_006261.5(PROP1):c.74_75dup (p.His26fs)	PROP1 (H26fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557462	NM_006261.5(PROP1):c.629dup (p.Pro211fs)	PROP1 (P211fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GConflicting classifications of pathogenicity
Select item 557236	NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)	PROP1 (S130fs)	Microsatellite (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 557212	NM_006261.5(PROP1):c.156dup (p.Arg53fs)	PROP1 (R53fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555076	NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del)	PROP1 (K14del)	Microsatellite (inframe_deletion)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 553577	NM_006261.5(PROP1):c.342+1G>A	PROP1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 552692	NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)	PROP1 (R125W)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 552210	NM_006261.5(PROP1):c.20_22dup (p.Arg7dup)	PROP1	Duplication (inframe_insertion)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 552012	NM_006261.5(PROP1):c.652dup (p.Ser218fs)	PROP1 (S218fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 551422	NM_006261.5(PROP1):c.191dup (p.Arg65fs)	PROP1 (R65fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 551288	NM_006261.5(PROP1):c.2T>C (p.Met1Thr)	PROP1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424617	NM_006261.5(PROP1):c.3G>C (p.Met1Ile)	PROP1 (M1I)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 371631	NM_006261.5(PROP1):c.197dup (p.His67fs)	PROP1 (H67fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 371561	NM_006261.5(PROP1):c.557del (p.Ala186fs)	PROP1 (A186fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 371145	NM_006261.5(PROP1):c.343-2A>T	PROP1	Single nucleotide variant (splice acceptor variant +1 more)	Pituitary hormone deficiency, combined, 2	GPathogenic/Likely pathogenic
Select item 371125	NM_006261.5(PROP1):c.390_391del (p.Leu131fs)	PROP1 (L131fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 370889	NM_006261.5(PROP1):c.110-2A>G	PROP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 370872	NM_006261.5(PROP1):c.288_289del (p.Ile96fs)	PROP1 (I96fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 353021	NM_006261.5(PROP1):c.-302G>A	PROP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353020	NM_006261.5(PROP1):c.-260A>T	PROP1	Single nucleotide variant (5 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 353019	NM_006261.5(PROP1):c.-210A>C	PROP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 353017	NM_006261.5(PROP1):c.27T>C (p.Ala9=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign
Select item 353016	NM_006261.5(PROP1):c.109+3G>A	PROP1	Single nucleotide variant (intron variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign
Select item 353015	NM_006261.5(PROP1):c.109+13C>T	PROP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353014	NM_006261.5(PROP1):c.335G>A (p.Arg112Gln)	PROP1 (R112Q)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GUncertain significance
Select item 353013	NM_006261.5(PROP1):c.618G>A (p.Leu206=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 353012	NM_006261.5(PROP1):c.623dup (p.Cys208fs)	PROP1 (C208fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 353011	NM_006261.5(PROP1):c.*52G>A	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353010	NM_006261.5(PROP1):c.*123T>C	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 353009	NM_006261.5(PROP1):c.*354G>A	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GBenign
Select item 353008	NM_006261.5(PROP1):c.*419C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GBenign
Select item 353007	NM_006261.5(PROP1):c.*468C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 288237	NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)	PROP1 (G18S)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 287515	NM_006261.5(PROP1):c.630A>C (p.Pro210=)	PROP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 286901	NM_006261.5(PROP1):c.592T>C (p.Leu198=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 286283	NM_006261.5(PROP1):c.471C>T (p.Tyr157=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196434	NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)	PROP1 (A142T)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign
Select item 196433	NM_006261.5(PROP1):c.456T>C (p.Ala152=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 196432	NM_006261.5(PROP1):c.425C>T (p.Ala142Val)	PROP1 (A142V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193335	NM_006261.5(PROP1):c.96G>A (p.Pro32=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +2 more	GConflicting classifications of pathogenicity
Select item 189062	NM_006261.5(PROP1):c.310del (p.Arg104fs)	PROP1 (R104fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188982	NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	PROP1 (R112*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 188820	NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)	PROP1 (G51A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 161433	NM_006261.5(PROP1):c.274C>T (p.Gln92Ter)	PROP1 (Q92*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 36702	NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)	PROP1 (R16*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2 +3 more	GPathogenic/Likely pathogenic
Select item 36701	NM_006261.5(PROP1):c.359G>A (p.Arg120His)	PROP1 (R120H)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form +2 more	GConflicting classifications of pathogenicity
Select item 36699	NM_006261.5(PROP1):c.174G>A (p.Pro58=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 8107	NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	PROP1 (W194*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GPathogenic/Likely pathogenic
Select item 8106	NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	PROP1 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 8105	NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)	PROP1 (R99*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 8104	NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)	PROP1 (R73C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 8103	NM_006261.5(PROP1):c.218G>A (p.Arg73His)	PROP1 (R73H)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic
Select item 8102	NM_006261.5(PROP1):c.150del (p.Arg53fs)	PROP1 (R53fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 8101	NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	PROP1 (S38fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic
Select item 8100	NM_006261.5(PROP1):c.263T>C (p.Phe88Ser)	PROP1 (F88S)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2	GPathogenic
Select item 8098	NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	PROP1 (L102fs)	Microsatellite (frameshift variant)	46,XY partial gonadal dysgenesis +3 more	GPathogenic/Likely pathogenic
Select item 8097	NM_006261.5(PROP1):c.150_151del (p.Gly52fs)	PROP1 (G52fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GPathogenic
Select item 8096	NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	PROP1 (F117I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8095	NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	PROP1 (R120C)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic

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Items: 96