7962[HGNC] - ClinVar

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Items: 49

	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 2214705	NM_021724.5(NR1D1):c.*60T>A	NR1D1, THRA (R372*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1319909	NM_021724.5(NR1D1):c.*44G>A	NR1D1, THRA (S377L)	Single nucleotide variant (missense variant +2 more)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 2357624	NM_021724.5(NR1D1):c.*23G>A	NR1D1, THRA (A384V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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_021724.5(NR1D1):c.1653G>A (p.Ser551=)	NR1D1, THRA (R417* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 3025362	NM_021724.5(NR1D1):c.1646-13G>A	NR1D1, THRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1299533	NM_021724.5(NR1D1):c.1646-42dup	NR1D1, THRA (S434fs +1 more)	Duplication (frameshift variant +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 3201862	NM_021724.5(NR1D1):c.1636G>T (p.Val546Phe)	NR1D1 (V546F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270673	NM_021724.5(NR1D1):c.1585T>G (p.Ser529Ala)	NR1D1 (S529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277393	NM_021724.5(NR1D1):c.1519G>C (p.Glu507Gln)	NR1D1 (E507Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621603	NM_021724.5(NR1D1):c.1381C>T (p.Arg461Cys)	NR1D1 (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245967	NM_021724.5(NR1D1):c.1327T>C (p.Phe443Leu)	NR1D1 (F443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738966	NM_021724.5(NR1D1):c.1249-7C>T	NR1D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2557065	NM_021724.5(NR1D1):c.1246C>A (p.Leu416Met)	NR1D1 (L416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300917	NM_021724.5(NR1D1):c.1210A>G (p.Asn404Asp)	NR1D1 (N404D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279137	NM_021724.5(NR1D1):c.1195G>A (p.Gly399Ser)	NR1D1 (G399S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201860	NM_021724.5(NR1D1):c.1187C>T (p.Ala396Val)	NR1D1 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468587	NM_021724.5(NR1D1):c.1066A>G (p.Asn356Asp)	NR1D1 (N356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780425	NM_021724.5(NR1D1):c.1062C>T (p.Ala354=)	NR1D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265186	NM_021724.5(NR1D1):c.1054A>G (p.Asn352Asp)	NR1D1 (N352D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201859	NM_021724.5(NR1D1):c.1049G>A (p.Arg350His)	NR1D1 (R350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330296	NM_021724.5(NR1D1):c.947C>T (p.Ala316Val)	NR1D1 (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400361	NM_021724.5(NR1D1):c.944A>G (p.Asn315Ser)	NR1D1 (N315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300913	NM_021724.5(NR1D1):c.830G>C (p.Arg277Thr)	NR1D1 (R277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538305	NM_021724.5(NR1D1):c.817C>G (p.Leu273Val)	NR1D1 (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482633	NM_021724.5(NR1D1):c.748A>G (p.Met250Val)	LOC130060799, NR1D1 (M250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300914	NM_021724.5(NR1D1):c.724A>C (p.Thr242Pro)	LOC130060799, NR1D1 (T242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294140	NM_021724.5(NR1D1):c.706C>A (p.Pro236Thr)	LOC130060799, NR1D1 (P236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201868	NM_021724.5(NR1D1):c.607G>A (p.Val203Met)	LOC130060799, NR1D1 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291956	NM_021724.5(NR1D1):c.541A>C (p.Asn181His)	NR1D1 (N181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201867	NM_021724.5(NR1D1):c.383T>C (p.Met128Thr)	NR1D1 (M128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201866	NM_021724.5(NR1D1):c.371A>G (p.Lys124Arg)	NR1D1 (K124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404324	NM_021724.5(NR1D1):c.281T>C (p.Phe94Ser)	NR1D1 (F94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545049	NM_021724.5(NR1D1):c.272C>T (p.Ser91Phe)	NR1D1 (S91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201865	NM_021724.5(NR1D1):c.266C>T (p.Ser89Leu)	NR1D1 (S89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462451	NM_021724.5(NR1D1):c.242C>T (p.Pro81Leu)	NR1D1 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781299	NM_021724.5(NR1D1):c.219C>T (p.Pro73=)	NR1D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238139	NM_021724.5(NR1D1):c.191C>T (p.Pro64Leu)	NR1D1 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300915	NM_021724.5(NR1D1):c.143G>A (p.Cys48Tyr)	NR1D1 (C48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300916	NM_021724.5(NR1D1):c.76C>T (p.Arg26Cys)	NR1D1 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Primary familial hypertrophic cardiomyopathy +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

ClinVar

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Items: 49