7067[geneid] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 3068842	NM_199334.5(THRA):c.-9T>G	THRA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1677413	NM_199334.5(THRA):c.53+6G>A	THRA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 561132	NM_199334.5(THRA):c.54-1G>A	THRA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3352717	NM_199334.5(THRA):c.83G>A (p.Arg28Lys)	THRA (R28K)	Single nucleotide variant (missense variant)	THRA-related disorder	GLikely benign
Select item 1709428	NM_199334.5(THRA):c.121+1G>A	THRA	Single nucleotide variant (splice donor variant)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 29913	NM_199334.5(THRA):c.134G>T (p.Ser45Ile)	THRA (S45I)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 1723508	NM_199334.5(THRA):c.146A>G (p.Lys49Arg)	THRA (K49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744855	NM_199334.5(THRA):c.150C>T (p.Asp50=)	THRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444802	NM_199334.5(THRA):c.195C>A (p.Tyr65Ter)	THRA (Y65*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 781298	NM_199334.5(THRA):c.223-8C>T	THRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723441	NM_199334.5(THRA):c.223-5C>G	THRA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3177126	NM_199334.5(THRA):c.250A>C (p.Asn84His)	THRA (N84H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206915	NM_199334.5(THRA):c.287G>T (p.Cys96Phe)	THRA (C96F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177127	NM_199334.5(THRA):c.298G>A (p.Asp100Asn)	THRA (D100N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325954	NM_199334.5(THRA):c.302A>G (p.Lys101Arg)	THRA (K101R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259020	NM_199334.5(THRA):c.351C>T (p.Ala117=)	THRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2518528	NM_199334.5(THRA):c.352G>A (p.Val118Met)	THRA (V118M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177129	NM_199334.5(THRA):c.403C>T (p.Arg135Cys)	THRA (R135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 803389	NM_199334.5(THRA):c.425G>T (p.Arg142Leu)	THRA (R142L)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 3251483	NM_199334.5(THRA):c.431G>A (p.Arg144Gln)	THRA (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739650	NM_199334.5(THRA):c.441G>A (p.Lys147=)	THRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686766	NM_199334.5(THRA):c.454C>T (p.Arg152Ter)	THRA (R152*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3234354	NM_199334.5(THRA):c.489A>G (p.Glu163=)	THRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738227	NM_199334.5(THRA):c.508A>G (p.Ile170Val)	THRA (I170V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 992628	NM_199334.5(THRA):c.518A>G (p.Glu173Gly)	THRA (E173G)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 2647733	NM_199334.5(THRA):c.536A>G (p.Asn179Ser)	THRA (N179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437003	NM_199334.5(THRA):c.577-4C>T	THRA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 847657	NM_199334.5(THRA):c.641C>G (p.Ala214Gly)	THRA (A214G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370184	NM_199334.5(THRA):c.668C>T (p.Thr223Ile)	THRA (T223I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368087	NM_199334.5(THRA):c.713T>C (p.Met238Thr)	THRA (M238T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780424	NM_199334.5(THRA):c.720C>T (p.Ser240=)	THRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224162	NM_199334.5(THRA):c.724-3C>T	THRA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3056779	NM_199334.5(THRA):c.724-2A>G	THRA	Single nucleotide variant (splice acceptor variant)	THRA-related disorder	GUncertain significance
Select item 3381652	NM_199334.5(THRA):c.733_736delinsTGTGGATGGTCTTC (p.Glu245fs)	THRA (E245fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 259021	NM_199334.5(THRA):c.738C>T (p.Asp246=)	THRA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1314060	NM_199334.5(THRA):c.756G>C (p.Lys252Asn)	THRA (K252N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522121	NM_199334.5(THRA):c.788C>T (p.Ala263Val)	THRA (A263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1305410	NM_199334.5(THRA):c.797G>A (p.Arg266His)	THRA (R266H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321940	NM_199334.5(THRA):c.814G>A (p.Asp272Asn)	THRA (D272N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1679212	NM_199334.5(THRA):c.818C>A (p.Thr273Asn)	THRA (T273N)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 724667	NM_199334.5(THRA):c.850C>A (p.Arg284=)	THRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662838	NM_199334.5(THRA):c.869G>A (p.Gly290Asp)	THRA (G290D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784543	NM_199334.5(THRA):c.870C>T (p.Gly290=)	THRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1186100	NM_199334.5(THRA):c.871G>A (p.Gly291Ser)	THRA (G291S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3337670	NM_199334.5(THRA):c.872G>A (p.Gly291Asp)	THRA (G291D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3024267	NM_199334.5(THRA):c.896T>C (p.Ile299Thr)	THRA (I299T)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 1691575	NM_199334.5(THRA):c.976T>G (p.Ser326Ala)	THRA (S326A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306004	NM_199334.5(THRA):c.1047C>G (p.Phe349Leu)	THRA (F349L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2278799	NM_199334.5(THRA):c.1057G>A (p.Val353Ile)	THRA (V353I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177125	NM_199334.5(THRA):c.1066C>T (p.Arg356Cys)	THRA (R356C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3456253	NM_199334.5(THRA):c.1069A>C (p.Lys357Gln)	THRA (K357Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 29914	NM_199334.5(THRA):c.1110G>C (p.Lys370Asn)	THRA (K370N)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 1064765	NM_199334.5(THRA):c.1132_1141del (p.Gly378fs)	THRA (G378fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 520565	NM_199334.5(THRA):c.1137del (p.Cys380fs)	THRA (C380fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3254965	NM_199334.5(THRA):c.1141C>T (p.His381Tyr)	THRA (H381Y)	Single nucleotide variant (missense variant +1 more)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 1216462	NM_199334.5(THRA):c.1150C>T (p.Arg384Cys)	THRA (R384C)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3340286	NM_199334.5(THRA):c.1151G>A (p.Arg384His)	THRA (R384H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2501885	NM_199334.5(THRA):c.1166A>G (p.Lys389Arg)	THRA (K389R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 192271	NM_199334.5(THRA):c.1176C>A (p.Cys392Ter)	THRA (C392*)	Single nucleotide variant (nonsense +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 192273	NM_199334.5(THRA):c.1193C>G (p.Pro398Arg)	THRA (P398R)	Single nucleotide variant (missense variant +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 760850	NM_199334.5(THRA):c.1197A>G (p.Pro399=)	THRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 792309	NM_199334.5(THRA):c.1200C>T (p.Leu400=)	THRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 192272	NM_199334.5(THRA):c.1207G>A (p.Glu403Lys)	THRA (E403K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2214705	NM_003250.6(THRA):c.1114A>T (p.Arg372Ter)	NR1D1, THRA (R372*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1319909	NM_001190919.2(THRA):c.1130C>T (p.Ser377Leu)	NR1D1, THRA (S377L)	Single nucleotide variant (intron variant +2 more)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 2357624	NM_003250.6(THRA):c.1151C>T (p.Ala384Val)	NR1D1, THRA (A384V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3407588	NM_021724.5(NR1D1):c.1837G>A (p.Ala613Thr)	NR1D1, THRA (A613T)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3201864	NM_021724.5(NR1D1):c.1829G>A (p.Arg610Gln)	NR1D1, THRA (P397L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3407586	NM_021724.5(NR1D1):c.1761G>C (p.Lys587Asn)	NR1D1, THRA (L381V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322280	NM_021724.5(NR1D1):c.1750C>T (p.Arg584Cys)	NR1D1, THRA (R584C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3201863	NM_021724.5(NR1D1):c.1732C>T (p.Arg578Trp)	NR1D1, THRA (R578W)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 225490	NM_001190918.2(THRA):c.1249C>T (p.Arg417Ter)	NR1D1, THRA (R417* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 3025362	NM_003250.6(THRA):c.1386C>T (p.Asp462=)	NR1D1, THRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1299533	NM_003250.6(THRA):c.1416dup (p.Ser473fs)	NR1D1, THRA (S434fs +1 more)	Duplication (frameshift variant +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 3360517	NM_199334.5(THRA):c.1124G>A (p.Arg375His)	THRA (R375H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 83