ClinVar for MedGen (Select 82881) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1258177	NM_000894.3(LHB):c.285T>C (p.Gly95=)	LHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1253699	NM_000894.3(LHB):c.183+18del	LHB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 818213	NM_000894.3(LHB):c.286G>A (p.Val96Met)	LHB (V96M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 769029	NM_000894.3(LHB):c.15+9A>G	LHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 769028	NM_000894.3(LHB):c.233C>A (p.Thr78Asn)	LHB (T78N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 518304	NM_000894.3(LHB):c.16-26T>C	LHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518303	NM_000894.3(LHB):c.114C>G (p.Val38=)	LHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 518302	NM_000894.3(LHB):c.132A>C (p.Pro44=)	LHB	Single nucleotide variant (synonymous variant)	Isolated lutropin deficiency +1 more	GBenign
Select item 518301	NM_000894.3(LHB):c.183+11T>C	LHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 189293	NM_000894.3(LHB):c.183+1G>T	LHB	Single nucleotide variant (splice donor variant)	Isolated lutropin deficiency	GPathogenic
Select item 189292	NM_000894.3(LHB):c.28_39del (p.Leu10_Leu13del)	LHB	Deletion (inframe_deletion)	Isolated lutropin deficiency	GPathogenic
Select item 189291	NM_000894.3(LHB):c.88_96del (p.His30_Ile32del)	LHB	Deletion (inframe_deletion)	Isolated lutropin deficiency	GPathogenic
Select item 189290	NM_000894.3(LHB):c.183+1G>C	LHB	Single nucleotide variant (splice donor variant)	Isolated lutropin deficiency	GPathogenic
Select item 14416	NM_000894.3(LHB):c.167G>A (p.Gly56Asp)	LHB (G56D)	Single nucleotide variant (missense variant)	Isolated lutropin deficiency	GPathogenic
Select item 14415	NM_000894.3(LHB):c.364G>A (p.Gly122Ser)	LHB (G122S)	Single nucleotide variant (missense variant)	Isolated lutropin deficiency +1 more	GLikely benign
Select item 14413	NM_000894.3(LHB):c.221A>G (p.Gln74Arg)	LHB (Q74R)	Single nucleotide variant (missense variant)	Isolated lutropin deficiency	GPathogenic