ClinVar for Gene (Select 5741) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029904	NC_000011.10:g.13496137C>T	LOC107988023, PTH	Single nucleotide variant (5 prime UTR variant)	PTH-related disorder	GLikely benign
Select item 2684637	GRCh37/hg19 11p15.2(chr11:13446803-13696943)x3	BTBD10, FAR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2627520	NM_000315.4(PTH):c.98T>A (p.Val33Glu)	PTH (V33E +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated 1	GUncertain significance
Select item 2609608	NM_000315.4(PTH):c.285A>T (p.Glu95Asp)	PTH (E127D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435280	NM_000315.4(PTH):c.86+4_86+7del	PTH	Microsatellite (splice donor variant)	Hypoparathyroidism, familial isolated 1	GUncertain significance
Select item 2422867	NC_000011.9:g.(?_13513952)_(13514402_?)del	PTH	Deletion	not provided	GPathogenic
Select item 2401901	NM_000315.4(PTH):c.230C>A (p.Ala77Asp)	PTH (A109D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2379132	NM_000315.4(PTH):c.196G>A (p.Val66Ile)	PTH (V98I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313006	NM_000315.4(PTH):c.211C>T (p.Pro71Ser)	PTH (P103S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206323	NM_000315.4(PTH):c.304G>A (p.Asp102Asn)	PTH (D102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2130275	NM_000315.4(PTH):c.47C>A (p.Ala16Glu)	PTH (A16E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917357	NM_000315.4(PTH):c.86+4A>T	PTH	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1338322	NM_000315.4(PTH):c.46_47delinsAA (p.Ala16Lys)	PTH (A16K +1 more)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 1289830	NM_000315.4(PTH):c.87-50G>A	PTH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276241	NM_000315.4(PTH):c.-5-98G>A	PTH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178813	NM_000315.4(PTH):c.187_188del	PTH	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 880247	NM_000315.4(PTH):c.69G>A (p.Ser23=)	PTH	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism	GBenign
Select item 880246	NM_000315.4(PTH):c.123C>A (p.Asn41Lys)	PTH (N41K +1 more)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism	GUncertain significance
Select item 880245	NM_000315.4(PTH):c.191A>G (p.Asn64Ser)	PTH (N64S +1 more)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism	GUncertain significance
Select item 879031	NM_000315.4(PTH):c.*97A>G	PTH	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 758235	NM_000315.4(PTH):c.120T>C (p.His40=)	PTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749954	NM_000315.4(PTH):c.177G>A (p.Leu59=)	PTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729358	NM_000315.4(PTH):c.124C>T (p.Leu42=)	PTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	PTH, RRAS2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 379458	NM_000315.4(PTH):c.166C>T (p.Arg56Cys)	PTH (R56C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 303706	NM_000315.4(PTH):c.-83T>C	LOC107988023, PTH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial hypoparathyroidism	GUncertain significance
Select item 303705	NM_000315.4(PTH):c.-33C>T	LOC107988023, PTH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial hypoparathyroidism +1 more	GUncertain significance
Select item 303704	NM_000315.4(PTH):c.86+9T>G	PTH	Single nucleotide variant (intron variant)	Familial hypoparathyroidism +1 more	GBenign
Select item 303703	NM_000315.4(PTH):c.276G>A (p.Glu92=)	PTH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 303702	NM_000315.4(PTH):c.*51A>G	PTH	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GBenign
Select item 303701	NM_000315.4(PTH):c.*55C>T	PTH	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 303700	NM_000315.4(PTH):c.*319A>G	PTH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 255817	NM_000315.4(PTH):c.247C>A (p.Arg83=)	PTH	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +3 more	GBenign
Select item 255816	NM_000315.4(PTH):c.-5-10G>A	PTH	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 64395	NM_000315.4(PTH):c.300G>T (p.Glu100Asp)	PTH (E100D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64394	NM_000315.4(PTH):c.122A>G (p.Asn41Ser)	PTH (N41S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13759	NM_000315.4(PTH):c.247C>T (p.Arg83Ter)	PTH (R83* +1 more)	Single nucleotide variant (nonsense)	Familial hypoparathyroidism	GLikely pathogenic
Select item 13758	NM_000315.4(PTH):c.67T>C (p.Ser23Pro)	PTH (S23P +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated 1	GPathogenic
Select item 13757	NM_000315.4(PTH):c.86+1G>C	PTH	Single nucleotide variant (splice donor variant)	Hypoparathyroidism, familial isolated 1	GPathogenic
Select item 13756	NM_000315.4(PTH):c.52T>C (p.Cys18Arg)	PTH (C18R +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated 1	GPathogenic

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Links from Gene

Items: 52