ClinVar for MedGen (Select 766501) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686048	NM_182977.3(NNT):c.1025T>C (p.Val342Ala)	NNT (V211A +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 1705519	NM_182977.3(NNT):c.2635-1G>T	NNT	Single nucleotide variant (splice acceptor variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 1705295	NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer)	NNT	Deletion (nonsense)	Glucocorticoid deficiency 4	GPathogenic
Select item 1687180	NM_182977.3(NNT):c.1822G>A (p.Gly608Arg)	NNT (G477R +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GUncertain significance
Select item 1325908	NM_182977.3(NNT):c.152-26_152-25insA	NNT	Insertion (intron variant)	Glucocorticoid deficiency 4	GBenign
Select item 1325907	NM_182977.3(NNT):c.-26T>C	NNT	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 4 +1 more	GBenign
Select item 1174913	NM_182977.3(NNT):c.46C>T (p.Leu16=)	NNT	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid deficiency 4 +1 more	GBenign
Select item 1119993	NM_182977.3(NNT):c.2274del (p.Ile758fs)	NNT (I627fs +1 more)	Deletion (frameshift variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 1030253	NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)	NNT (S926R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030252	NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)	NNT (S496L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030251	NM_182977.3(NNT):c.1817T>C (p.Val606Ala)	NNT (V475A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030250	NM_182977.3(NNT):c.1424C>T (p.Thr475Met)	NNT (T344M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 931319	NM_182977.3(NNT):c.1098+17T>C	NNT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 930557	NM_182977.3(NNT):c.1575dup (p.Pro526fs)	NNT (P395fs +1 more)	Duplication (frameshift variant)	Glucocorticoid deficiency 4	GLikely pathogenic
Select item 800942	NM_182977.3(NNT):c.98dup (p.Leu33fs)	NNT (L33fs)	Duplication (5 prime UTR variant +1 more)	Glucocorticoid deficiency 4	GPathogenic
Select item 703892	NM_182977.3(NNT):c.80G>A (p.Arg27His)	NNT (R27H)	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid deficiency 4 +1 more	GBenign
Select item 265844	NM_182977.3(NNT):c.211C>T (p.Arg71Ter)	NNT (R71*)	Single nucleotide variant (nonsense +1 more)	Glucocorticoid deficiency 4	GPathogenic
Select item 265843	NM_182977.3(NNT):c.385C>T (p.Arg129Ter)	NNT (R129*)	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid deficiency 4	GPathogenic
Select item 265842	NM_182977.3(NNT):c.598G>A (p.Gly200Ser)	NNT (G200S +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GLikely pathogenic
Select item 265839	NM_182977.3(NNT):c.644T>C (p.Phe215Ser)	NNT (F215S +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 218365	NM_182977.3(NNT):c.1259dup (p.His421fs)	NNT (H290fs +1 more)	Duplication (frameshift variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 35543	NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro)	NNT (A1008P +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 35542	NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys)	NNT (N1009K +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 35541	NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)	NNT	Deletion (frameshift variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 35540	NM_182977.3(NNT):c.2930T>C (p.Leu977Pro)	NNT (L977P +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 35539	NM_182977.3(NNT):c.600-1del	NNT	Deletion (splice acceptor variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 35538	NM_182977.3(NNT):c.1598C>T (p.Ala533Val)	NNT (A533V +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic

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Items: 27