ClinVar for Gene (Select 5626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375205	NM_006261.5(PROP1):c.629C>T (p.Pro210Leu)	PROP1 (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339206	NC_000005.9:g.(?_177419235)_(177423244_?)dup	PROP1	Duplication	not specified	GUncertain significance
Select item 3338899	NM_006261.5(PROP1):c.-6C>A	PROP1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3310309	NM_006261.5(PROP1):c.275A>G (p.Gln92Arg)	PROP1 (Q92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
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 3219056	NM_006261.5(PROP1):c.80C>T (p.Pro27Leu)	PROP1 (P27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219055	NM_006261.5(PROP1):c.52G>T (p.Gly18Cys)	PROP1 (G18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219054	NM_006261.5(PROP1):c.433A>G (p.Ser145Gly)	PROP1 (S145G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219053	NM_006261.5(PROP1):c.403C>G (p.Leu135Val)	PROP1 (L135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219052	NM_006261.5(PROP1):c.32A>G (p.Lys11Arg)	PROP1 (K11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219051	NM_006261.5(PROP1):c.28G>A (p.Glu10Lys)	PROP1 (E10K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219049	NM_006261.5(PROP1):c.19C>T (p.Arg7Cys)	PROP1 (R7C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3047433	NM_006261.5(PROP1):c.632C>A (p.Pro211His)	PROP1 (P211H)	Single nucleotide variant (missense variant)	PROP1-related disorder	GUncertain significance
Select item 3017815	NM_006261.5(PROP1):c.426C>A (p.Ala142=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015693	NM_006261.5(PROP1):c.64T>C (p.Leu22=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010199	NM_006261.5(PROP1):c.90delinsAA (p.Thr31fs)	PROP1 (T31fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2993229	NM_006261.5(PROP1):c.343-18G>T	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976704	NM_006261.5(PROP1):c.342+7C>T	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975798	NM_006261.5(PROP1):c.285C>T (p.Asp95=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972401	NM_006261.5(PROP1):c.109+8A>G	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911381	NM_006261.5(PROP1):c.109+15C>T	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908225	NM_006261.5(PROP1):c.357C>T (p.Asn119=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908021	NM_006261.5(PROP1):c.109+14C>T	PROP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2898623	NM_006261.5(PROP1):c.109+20T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895774	NM_006261.5(PROP1):c.114G>T (p.Ser38=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882305	NM_006261.5(PROP1):c.110-9C>T	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873133	NM_006261.5(PROP1):c.426C>T (p.Ala142=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865641	NM_006261.5(PROP1):c.39G>A (p.Lys13=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862658	NM_006261.5(PROP1):c.218_225del (p.Arg73fs)	PROP1 (R73fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2861514	NM_006261.5(PROP1):c.109+8A>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860293	NM_006261.5(PROP1):c.630A>G (p.Pro210=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846677	NM_006261.5(PROP1):c.110-20T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838915	NM_006261.5(PROP1):c.522C>T (p.Ala174=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837842	NM_006261.5(PROP1):c.343-18G>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835504	NM_006261.5(PROP1):c.111C>T (p.Asp37=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833230	NM_006261.5(PROP1):c.110-16T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829577	NM_006261.5(PROP1):c.109+16G>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828161	NM_006261.5(PROP1):c.110-20del	PROP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2826946	NM_006261.5(PROP1):c.309C>T (p.Ala103=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816695	NM_006261.5(PROP1):c.63G>T (p.Leu21=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814627	NM_006261.5(PROP1):c.99C>A (p.Thr33=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812497	NM_006261.5(PROP1):c.495C>G (p.Thr165=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804795	NM_006261.5(PROP1):c.573T>C (p.Ser191=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802956	NM_006261.5(PROP1):c.54C>T (p.Gly18=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796389	NM_006261.5(PROP1):c.408C>A (p.Ala136=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795378	NM_006261.5(PROP1):c.279C>T (p.Tyr93=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792450	NM_006261.5(PROP1):c.99C>T (p.Thr33=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769425	NM_006261.5(PROP1):c.396T>C (p.Leu132=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760398	NM_006261.5(PROP1):c.343-9C>A	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759657	NM_006261.5(PROP1):c.192C>T (p.Gly64=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758219	NM_006261.5(PROP1):c.462C>G (p.Pro154=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752750	NM_006261.5(PROP1):c.581G>A (p.Trp194Ter)	PROP1 (W194*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2749914	NM_006261.5(PROP1):c.334C>A (p.Arg112=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749321	NM_006261.5(PROP1):c.306T>C (p.Leu102=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741739	NM_006261.5(PROP1):c.156G>T (p.Gly52=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737888	NM_006261.5(PROP1):c.343-11C>T	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732155	NM_006261.5(PROP1):c.115_116insCCCTGCAGAAGGCACCCTCA (p.Ser39fs)	PROP1 (S39fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2729647	NM_006261.5(PROP1):c.1A>G (p.Met1Val)	PROP1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2719343	NM_006261.5(PROP1):c.327T>C (p.Ser109=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709152	NM_006261.5(PROP1):c.474A>T (p.Ala158=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708818	NM_006261.5(PROP1):c.109+17G>A	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706453	NM_006261.5(PROP1):c.207G>A (p.Arg69=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694770	NM_006261.5(PROP1):c.549C>A (p.Gly183=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694409	NM_006261.5(PROP1):c.129C>A (p.Cys43Ter)	PROP1 (C43*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
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 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2540066	NM_006261.5(PROP1):c.224C>T (p.Thr75Ile)	PROP1 (T75I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456387	NM_006261.5(PROP1):c.113C>T (p.Ser38Leu)	PROP1 (S38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426362	NC_000005.9:g.(?_177419710)_(177578014_?)dup	N4BP3, NHP2 +2 more	Duplication	Dyskeratosis congenita	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication		GUncertain significance
Select item 2425548	NC_000005.9:g.(?_177419710)_(177422934_?)dup	PROP1	Duplication	not provided	GUncertain significance
Select item 2398340	NM_006261.5(PROP1):c.47G>A (p.Arg16Gln)	PROP1 (R16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371376	NM_006261.5(PROP1):c.557C>T (p.Ala186Val)	PROP1 (A186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273076	NM_006261.5(PROP1):c.125C>T (p.Pro42Leu)	PROP1 (P42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232090	NM_006261.5(PROP1):c.472GCA[3] (p.Ala159_Pro160insAla)	PROP1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2202427	NM_006261.5(PROP1):c.109+16G>A	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2195372	NM_006261.5(PROP1):c.488C>A (p.Pro163Gln)	PROP1 (P163Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186127	NM_006261.5(PROP1):c.609C>A (p.Ala203=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166845	NM_006261.5(PROP1):c.310C>T (p.Arg104Trp)	PROP1 (R104W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2153149	NM_006261.5(PROP1):c.550G>A (p.Ala184Thr)	PROP1 (A184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148161	NM_006261.5(PROP1):c.671C>G (p.Ser224Cys)	PROP1 (S224C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140676	NM_006261.5(PROP1):c.591C>A (p.Thr197=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140496	NM_006261.5(PROP1):c.209G>A (p.Arg70His)	PROP1 (R70H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135043	NM_006261.5(PROP1):c.477A>G (p.Ala159=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127143	NM_006261.5(PROP1):c.463del (p.Tyr155fs)	PROP1 (Y155fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2124417	NM_006261.5(PROP1):c.126C>T (p.Pro42=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118309	NM_006261.5(PROP1):c.141T>C (p.Pro47=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098727	NM_006261.5(PROP1):c.276G>A (p.Gln92=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094482	NM_006261.5(PROP1):c.109+9C>T	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075327	NM_006261.5(PROP1):c.411T>C (p.His137=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056168	NM_006261.5(PROP1):c.195C>T (p.Arg65=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042396	NM_006261.5(PROP1):c.59= (p.Asn20=)	PROP1	Variation (no sequence alteration)	not provided	GUncertain significance

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