ClinVar for MedGen (Select 337159) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 914879	NM_024921.4(POF1B):c.1348C>A (p.Gln450Lys)	POF1B (Q450K)	Single nucleotide variant (missense variant)	Premature ovarian failure 2B	GUncertain significance
Select item 914878	NM_024921.4(POF1B):c.1402A>C (p.Arg468=)	POF1B	Single nucleotide variant (synonymous variant)	Premature ovarian failure 2B	GUncertain significance
Select item 914877	NM_024921.4(POF1B):c.1595A>G (p.Tyr532Cys)	POF1B (Y532C)	Single nucleotide variant (missense variant)	Premature ovarian failure 2B	GUncertain significance
Select item 914837	NM_024921.4(POF1B):c.*1744A>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 913301	NM_024921.4(POF1B):c.85C>A (p.His29Asn)	POF1B (H29N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 913266	NM_024921.4(POF1B):c.*313C>T	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 913265	NM_024921.4(POF1B):c.*484C>T	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 913264	NM_024921.4(POF1B):c.*686C>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GLikely benign
Select item 912930	NM_024921.4(POF1B):c.220G>T (p.Val74Leu)	POF1B (V74L)	Single nucleotide variant (missense variant)	Premature ovarian failure 2B	GUncertain significance
Select item 912929	NM_024921.4(POF1B):c.960G>A (p.Met320Ile)	POF1B (M320I)	Single nucleotide variant (missense variant)	Premature ovarian failure 2B	GUncertain significance
Select item 912885	NM_024921.4(POF1B):c.*780G>A	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 912884	NM_024921.4(POF1B):c.*837T>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 912883	NM_024921.4(POF1B):c.*1113T>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 730366	NM_024921.4(POF1B):c.1566+10G>A	POF1B	Single nucleotide variant (intron variant)	Premature ovarian failure 2B +1 more	GBenign
Select item 726031	NM_024921.4(POF1B):c.1764+3A>G	POF1B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 713840	NM_024921.4(POF1B):c.1383G>A (p.Thr461=)	POF1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 632054	NM_024921.4(POF1B):c.76C>T (p.Gln26Ter)	POF1B (Q26*)	Single nucleotide variant (nonsense)	Premature ovarian failure 2B +1 more	GUncertain significance
Select item 368792	NM_024921.4(POF1B):c.-61C>T	POF1B	Single nucleotide variant (5 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368791	NM_024921.4(POF1B):c.113A>C (p.Gln38Pro)	POF1B (Q38P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 368790	NM_024921.4(POF1B):c.619C>T (p.Pro207Ser)	POF1B (P207S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 368789	NM_024921.4(POF1B):c.641A>G (p.Gln214Arg)	POF1B (Q214R)	Single nucleotide variant (missense variant)	Premature ovarian failure 2B	GBenign
Select item 368788	NM_024921.4(POF1B):c.716G>C (p.Cys239Ser)	POF1B (C239S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 368787	NM_024921.4(POF1B):c.1045A>T (p.Met349Leu)	POF1B (M349L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 368786	NM_024921.4(POF1B):c.1300C>A (p.Gln434Lys)	POF1B (Q434K)	Single nucleotide variant (missense variant)	Premature ovarian failure 2B	GLikely benign
Select item 368785	NM_024921.4(POF1B):c.1371C>G (p.Gly457=)	POF1B	Single nucleotide variant (synonymous variant)	Premature ovarian failure 2B	GBenign
Select item 368784	NM_024921.4(POF1B):c.1374C>T (p.Asn458=)	POF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 368783	NM_024921.4(POF1B):c.1572C>G (p.Leu524=)	POF1B	Single nucleotide variant (synonymous variant)	Premature ovarian failure 2B	GBenign
Select item 368782	NM_024921.4(POF1B):c.1644T>C (p.Thr548=)	POF1B	Single nucleotide variant (synonymous variant)	POF1B-related disorder +1 more	GLikely benign
Select item 368781	NM_024921.4(POF1B):c.*42T>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GLikely benign
Select item 368780	NM_024921.4(POF1B):c.*44T>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368779	NM_024921.4(POF1B):c.44_45insG	POF1B	Insertion (3 prime UTR variant)	Premature ovarian failure 2B	GLikely benign
Select item 368778	NM_024921.4(POF1B):c.*132T>C	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 368777	NM_024921.4(POF1B):c.*268T>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368776	NM_024921.4(POF1B):c.*312A>C	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368775	NM_024921.4(POF1B):c.*352A>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368774	NM_024921.4(POF1B):c.*368G>T	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368773	NM_024921.4(POF1B):c.*584A>C	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 368772	NM_024921.4(POF1B):c.*635T>C	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 368771	NM_024921.4(POF1B):c.*669T>C	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368770	NM_024921.4(POF1B):c.*755G>A	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368769	NM_024921.4(POF1B):c.*775G>T	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368768	NM_024921.4(POF1B):c.*835C>T	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 368767	NM_024921.4(POF1B):c.*1019C>A	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368766	NM_024921.4(POF1B):c.*1112G>A	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 368765	NM_024921.4(POF1B):c.*1173C>A	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +1 more	GLikely benign
Select item 368764	NM_024921.4(POF1B):c.*1380T>G	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GBenign
Select item 368763	NM_024921.4(POF1B):c.*1431A>C	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +1 more	GBenign
Select item 368762	NM_024921.4(POF1B):c.*1626G>A	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +1 more	GBenign
Select item 368761	NM_024921.4(POF1B):c.*1686G>T	POF1B	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B	GUncertain significance
Select item 368760	NM_024921.4(POF1B):c.*1808A>G	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Non-syndromic X-linked intellectual disability +1 more	GLikely benign
Select item 368759	NM_024921.4(POF1B):c.*1849G>A	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +1 more	GBenign
Select item 368758	NM_001330574.2(ZNF711):c.*1411G>A	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +2 more	GBenign/Likely benign
Select item 368757	NM_001330574.2(ZNF711):c.*1260G>A	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +2 more	GBenign/Likely benign
Select item 368755	NM_001330574.2(ZNF711):c.*632A>G	POF1B, ZNF711	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 2B +2 more	GBenign
Select item 10794	NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)	POF1B (R329Q)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency +2 more	GConflicting classifications of pathogenicity

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Items: 55