ClinVar for MedGen (Select 891117) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686050	NM_178817.4(MRAP):c.-151+125C>T	MRAP	Single nucleotide variant (intron variant)	Glucocorticoid deficiency 2	GUncertain significance
Select item 899241	NM_001379228.1(MRAP):c.*197T>C	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 899240	NM_001379228.1(MRAP):c.*181G>A	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 899239	NM_001379228.1(MRAP):c.*14T>A	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 898130	NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser)	MRAP, URB1 (G92S +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 898129	NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys)	MRAP, URB1 (Q32K +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 896510	NM_001379228.1(MRAP):c.126C>T (p.Phe42=)	LOC125418060, MRAP +1 more	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 896509	NM_001379228.1(MRAP):c.107-5C>T	LOC125418060, MRAP +1 more	Single nucleotide variant (intron variant)	Glucocorticoid deficiency 2	GUncertain significance
Select item 895070	NM_178817.4(MRAP):c.-67C>T	MRAP	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 2	GLikely benign
Select item 895069	NM_178817.4(MRAP):c.-91C>T	MRAP	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 2	GLikely benign
Select item 444068	NM_001379228.1(MRAP):c.106+1del	MRAP	Deletion (splice donor variant +1 more)	Glucocorticoid deficiency 1 +1 more	GPathogenic
Select item 339687	NM_001379228.1(MRAP):c.*108A>G	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2 +1 more	GBenign
Select item 339686	NM_001379228.1(MRAP):c.508T>A (p.Leu170Met)	MRAP, URB1 (L170M +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339685	NM_001379228.1(MRAP):c.486C>G (p.Pro162=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339684	NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser)	MRAP, URB1 (N149S +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GLikely benign
Select item 339683	NM_001379228.1(MRAP):c.390C>G (p.Thr130=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	Glucocorticoid deficiency 2	GBenign
Select item 339682	NM_001379228.1(MRAP):c.389C>T (p.Thr130Ile)	MRAP, URB1 (T130I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 339681	NM_001379228.1(MRAP):c.234C>G (p.Cys78Trp)	MRAP, URB1 (C78W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 339680	NM_001379228.1(MRAP):c.219G>A (p.Lys73=)	URB1, MRAP	Single nucleotide variant (synonymous variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339679	NM_001379228.1(MRAP):c.206+13G>C	MRAP, MRAP-AS1 +1 more	Single nucleotide variant (intron variant)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339678	NM_001379228.1(MRAP):c.148G>A (p.Val50Met)	MRAP-AS1, LOC125418060 +1 more (V50M)	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid deficiency 2 +1 more	GBenign/Likely benign
Select item 339677	NM_001379228.1(MRAP):c.132G>T (p.Val44=)	LOC125418060, MRAP +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid deficiency 2 +1 more	GBenign
Select item 339676	NM_001379228.1(MRAP):c.106+15G>C	MRAP	Single nucleotide variant (intron variant)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339675	NM_178817.4(MRAP):c.-20G>C	MRAP	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 2	GBenign
Select item 339673	NM_178817.4(MRAP):c.-130A>G	MRAP	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 2	GBenign
Select item 339672	NM_178817.4(MRAP):c.-156C>T	MRAP	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339671	NM_178817.4(MRAP):c.-157G>A	MRAP	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 2	GUncertain significance
Select item 1843	NM_001379228.1(MRAP):c.17_23del (p.Asn6fs)	MRAP (N6fs)	Deletion (frameshift variant +1 more)	Glucocorticoid deficiency 2	GPathogenic
Select item 1842	NM_001379228.1(MRAP):c.130del (p.Trp43_Val44insTer)	LOC125418060, MRAP +1 more	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1841	NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)	MRAP (M1I)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2 +1 more	GPathogenic
Select item 1840	NM_001379228.1(MRAP):c.106+3_106+4insT	MRAP	Insertion (intron variant)	Glucocorticoid deficiency 2	GPathogenic
Select item 1838	NM_001379228.1(MRAP):c.106+1G>A	MRAP	Single nucleotide variant (splice donor variant +1 more)	Glucocorticoid deficiency 2	GPathogenic
Select item 1837	NM_001379228.1(MRAP):c.106+1G>C	MRAP	Single nucleotide variant (splice donor variant +1 more)	Glucocorticoid deficiency 2	GPathogenic
Select item 1836	NM_001379228.1(MRAP):c.106+1G>T	MRAP	Single nucleotide variant (splice donor variant +1 more)	Glucocorticoid deficiency 2	GPathogenic

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Items: 34