ClinVar for Gene (Select 3972) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373288	NM_000894.3(LHB):c.16-5C>T	LHB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3290590	NM_000894.3(LHB):c.212C>T (p.Pro71Leu)	LHB (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290589	NM_000894.3(LHB):c.278C>T (p.Pro93Leu)	LHB (P93L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2899220	NM_000894.3(LHB):c.39G>A (p.Leu13=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721085	NM_000894.3(LHB):c.184-10C>T	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712219	NM_000894.3(LHB):c.240T>C (p.Arg80=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2462566	NM_000894.3(LHB):c.295G>A (p.Val99Met)	LHB (V99M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461098	NM_000894.3(LHB):c.326G>A (p.Arg109His)	LHB (R109H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 2413647	NM_000894.3(LHB):c.169T>C (p.Tyr57His)	LHB (Y57H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404748	NM_000894.3(LHB):c.10C>T (p.Leu4Phe)	LHB (L4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402827	NM_000894.3(LHB):c.133G>A (p.Val45Met)	LHB (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392743	NM_000894.3(LHB):c.71C>T (p.Pro24Leu)	LHB (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384183	NM_000894.3(LHB):c.278C>G (p.Pro93Arg)	LHB (P93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281341	NM_000894.3(LHB):c.211C>G (p.Pro71Ala)	LHB (P71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251448	NM_000894.3(LHB):c.373G>A (p.Asp125Asn)	LHB (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2084609	NM_000894.3(LHB):c.81A>T (p.Pro27=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980163	NM_000894.3(LHB):c.175C>G (p.Pro59Ala)	LHB (P59A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1980162	NM_000894.3(LHB):c.339C>T (p.Cys113=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607031	NM_000894.3(LHB):c.246G>A (p.Val82=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1430143	NM_000894.3(LHB):c.89A>G (p.His30Arg)	LHB (H30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382443	NM_000894.3(LHB):c.183G>T (p.Met61Ile)	LHB (M61I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1292721	NC_000019.10:g.49017115A>T	LHB	Single nucleotide variant	not provided	GBenign
Select item 1277510	NC_000019.10:g.49015801T>C	LHB, RUVBL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275364	NC_000019.10:g.49017349C>G	LHB	Single nucleotide variant	not provided	GBenign
Select item 1272786	NM_000894.3(LHB):c.15+110A>G	LHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261028	NM_000894.3(LHB):c.*85C>T	RUVBL2, LHB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260593	NM_000894.3(LHB):c.15+107G>A	LHB	Single nucleotide variant (intron variant)	not provided	GBenign
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 1244428	NC_000019.10:g.49015973T>G	LHB, RUVBL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1241504	NC_000019.10:g.49017357C>T	LHB	Single nucleotide variant	not provided	GBenign
Select item 1235466	NC_000019.10:g.49017245C>T	LHB	Single nucleotide variant	not provided	GBenign
Select item 1228165	NC_000019.10:g.49017319C>T	LHB	Single nucleotide variant	not provided	GBenign
Select item 1224995	NM_000894.3(LHB):c.52G>A (p.Ala18Thr)	LHB (A18T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1217425	NM_000894.3(LHB):c.15+72C>A	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216016	NM_000894.3(LHB):c.184-84C>T	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212579	NM_000894.3(LHB):c.184-83A>G	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210598	NM_000894.3(LHB):c.45G>A (p.Met15Ile)	LHB (M15I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1208621	NM_000894.3(LHB):c.16-69C>T	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207743	NM_000894.3(LHB):c.184-39T>C	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207124	NM_000894.3(LHB):c.184-82G>A	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190415	NC_000019.10:g.49017224C>T	LHB	Single nucleotide variant	not provided	GLikely benign
Select item 1188745	NM_000894.3(LHB):c.16-66G>A	LHB	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1187808	NM_000894.3(LHB):c.16-104G>C	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186760	NM_000894.3(LHB):c.16-122C>A	LHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183687	NM_000894.3(LHB):c.16-105G>A	LHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180141	NC_000019.10:g.49017355G>A	LHB	Single nucleotide variant	not provided	GBenign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
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 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 782654	NM_000894.3(LHB):c.231C>T (p.Cys77=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782058	NM_000894.3(LHB):c.415C>T (p.Leu139Phe)	LHB (L139F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781469	NM_000894.3(LHB):c.200C>G (p.Ala67Gly)	LHB (A67G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 759653	NM_000894.3(LHB):c.210G>A (p.Pro70=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721564	NM_000894.3(LHB):c.262C>T (p.Arg88Trp)	LHB (R88W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714891	NM_000894.3(LHB):c.189C>G (p.Arg63=)	LHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
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 446195	NM_000894.3(LHB):c.82T>C (p.Trp28Arg)	LHB (W28R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 446194	NM_000894.3(LHB):c.104T>C (p.Ile35Thr)	LHB (I35T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441529	NM_000894.2(LHB):c.[104T>C;82T>C]	LHB (I35T +1 more)	Single nucleotide variant (missense variant)	LUTEINIZING HORMONE POLYMORPHISM	GBenign
Select item 394595	GRCh37/hg19 19q13.33(chr19:49519850-49558959)x3	CGB1, CGB2 +5 more	Copy number gain	See cases	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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	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

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Links from Gene

Items: 83