11609[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 154270	GRCh38/hg38 7q34(chr7:139476271-140449156)x1	CLEC2L, HIPK2 +53 more	Copy number loss	See cases	GUncertain significance
Select item 1227899	NM_001130966.5(TBXAS1):c.-79-449G>T	TBXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 597019	NM_001061.7(TBXAS1):c.-6G>A	LOC126860199, TBXAS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2055542	NM_001061.7(TBXAS1):c.2T>C (p.Met1Thr)	LOC126860199, TBXAS1 (M2T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 795897	NM_001061.7(TBXAS1):c.15G>T (p.Gly5=)	LOC126860199, TBXAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2187130	NM_001061.7(TBXAS1):c.31G>A (p.Val11Met)	LOC126860199, TBXAS1 (V12M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1380056	NM_001061.7(TBXAS1):c.31G>C (p.Val11Leu)	LOC126860199, TBXAS1 (V11L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2053992	NM_001061.7(TBXAS1):c.50C>T (p.Thr17Met)	LOC126860199, TBXAS1 (T18M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 288204	NM_001061.7(TBXAS1):c.51G>A (p.Thr17=)	LOC126860199, TBXAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1927629	NM_001061.7(TBXAS1):c.57C>T (p.Ala19=)	LOC126860199, TBXAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1601007	NM_001061.7(TBXAS1):c.75G>A (p.Leu25=)	LOC126860199, TBXAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 252535	NM_001061.7(TBXAS1):c.90-1G>C	TBXAS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2612831	NM_001061.7(TBXAS1):c.101C>T (p.Ser34Leu)	TBXAS1 (S35L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2174843	NM_001061.7(TBXAS1):c.112A>G (p.Arg38Gly)	TBXAS1 (K9R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992886	NM_001061.7(TBXAS1):c.122_135del (p.Lys41fs)	TBXAS1 (E12fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1975445	NM_001061.7(TBXAS1):c.170C>G (p.Thr57Arg)	TBXAS1 (T58R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1459406	NM_001061.7(TBXAS1):c.178C>T (p.Arg60Cys)	TBXAS1 (P31L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 547027	NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)	TBXAS1 (R60H)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 288232	NM_001061.7(TBXAS1):c.179G>T (p.Arg60Leu)	TBXAS1 (R60L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1382815	NM_001061.7(TBXAS1):c.183+3A>G	TBXAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 499766	NM_001061.7(TBXAS1):c.183+5G>A	TBXAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2192268	NM_001061.7(TBXAS1):c.183+7G>A	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939357	NM_001061.7(TBXAS1):c.183+18T>G	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977525	NM_001061.7(TBXAS1):c.184-15C>T	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897387	NM_001061.7(TBXAS1):c.184-11_184-10del	TBXAS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2422022	NM_001061.7(TBXAS1):c.184G>T (p.Gly62Cys)	TBXAS1 (G33V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1031016	NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter)	TBXAS1 (E65* +1 more)	Single nucleotide variant (nonsense +2 more)	Ghosal hematodiaphyseal dysplasia	GPathogenic
Select item 196309	NM_001061.7(TBXAS1):c.193G>A (p.Glu65Lys)	TBXAS1 (E65K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664045	NM_001061.7(TBXAS1):c.201A>C (p.Gln67His)	TBXAS1 (N39H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 196308	NM_001061.7(TBXAS1):c.208C>T (p.Leu70Phe)	TBXAS1 (L3F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 594162	NM_001061.7(TBXAS1):c.224G>A (p.Gly75Glu)	TBXAS1 (W46* +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723465	NM_001061.7(TBXAS1):c.236+8G>A	TBXAS1 (R53K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1674038	NM_001061.7(TBXAS1):c.236+20TTTCTATTATGTACGATAT[3]	TBXAS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1966692	NM_001061.7(TBXAS1):c.236+42_236+60del	TBXAS1	Microsatellite (intron variant +1 more)	not provided	GLikely benign
Select item 3044455	NM_001061.7(TBXAS1):c.236+33C>T	TBXAS1	Single nucleotide variant (intron variant)	TBXAS1-related disorder	GLikely benign
Select item 1671593	NM_001061.7(TBXAS1):c.237-12dup	TBXAS1	Duplication (intron variant)	not provided	GBenign
Select item 2476806	NM_001061.7(TBXAS1):c.238T>C (p.Tyr80His)	TBXAS1 (Y81H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1950943	NM_001061.7(TBXAS1):c.243T>C (p.Tyr81=)	TBXAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 11887	NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro)	TBXAS1 (L15P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192846	NM_001061.7(TBXAS1):c.247G>C (p.Gly83Arg)	TBXAS1 (G16R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 838155	NM_001061.7(TBXAS1):c.251G>T (p.Arg84Leu)	TBXAS1 (R65L +2 more)	Single nucleotide variant (missense variant +1 more)	Thromboxane synthetase deficiency +1 more	GUncertain significance
Select item 444734	NM_001061.7(TBXAS1):c.263T>C (p.Ile88Thr)	TBXAS1 (I21T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2062884	NM_001061.7(TBXAS1):c.265G>A (p.Val89Ile)	TBXAS1 (V90I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068924	NM_001061.7(TBXAS1):c.274G>A (p.Glu92Lys)	TBXAS1 (E25K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1567548	NM_001061.7(TBXAS1):c.297G>A (p.Val99=)	TBXAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1713984	NM_001061.7(TBXAS1):c.302T>G (p.Val101Gly)	TBXAS1 (V101G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1420811	NM_001061.7(TBXAS1):c.302T>A (p.Val101Asp)	TBXAS1 (V101D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511024	NM_001061.7(TBXAS1):c.333+4C>T	TBXAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2816324	NM_001061.7(TBXAS1):c.333+8_333+13del	TBXAS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2816325	NM_001061.7(TBXAS1):c.333+15T>A	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816326	NM_001061.7(TBXAS1):c.333+17C>G	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816327	NM_001061.7(TBXAS1):c.333+19_333+20insGAAAG	TBXAS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1904727	NM_001061.7(TBXAS1):c.333+18C>T	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586173	NM_001061.7(TBXAS1):c.333+19G>A	TBXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041125	NM_001061.7(TBXAS1):c.333+1811G>A	TBXAS1 (R134Q)	Single nucleotide variant (missense variant +1 more)	TBXAS1-related disorder	GLikely benign
Select item 2754700	NM_001061.7(TBXAS1):c.334-20_334-19insA	TBXAS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1909702	NM_001061.7(TBXAS1):c.334-18C>T	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599140	NM_001061.7(TBXAS1):c.334-15G>A	TBXAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205947	NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val)	TBXAS1 (A112V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1932170	NM_001061.7(TBXAS1):c.336G>A (p.Ala112=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606922	NM_001061.7(TBXAS1):c.338C>T (p.Ser113Leu)	TBXAS1 (S113L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1379668	NM_001061.7(TBXAS1):c.356C>T (p.Ser119Leu)	TBXAS1 (S58L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169798	NM_001061.7(TBXAS1):c.357G>C (p.Ser119=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499773	NM_001061.7(TBXAS1):c.357G>A (p.Ser119=)	TBXAS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3174994	NM_001061.7(TBXAS1):c.361G>A (p.Ala121Thr)	TBXAS1 (A121T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 499895	NM_001061.7(TBXAS1):c.364G>A (p.Asp122Asn)	TBXAS1 (D55N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793738	NM_001061.7(TBXAS1):c.366C>T (p.Asp122=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610311	NM_001061.7(TBXAS1):c.370G>A (p.Val124Ile)	TBXAS1 (V105I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3358487	NM_001061.7(TBXAS1):c.373_374del (p.Leu125fs)	TBXAS1 (L106fs +3 more)	Deletion (frameshift variant)	TBXAS1-related disorder	GUncertain significance
Select item 2175679	NM_001061.7(TBXAS1):c.382C>T (p.Arg128Cys)	TBXAS1 (R109C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010034	NM_001061.7(TBXAS1):c.396G>A (p.Trp132Ter)	TBXAS1 (W113* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1625639	NM_001061.7(TBXAS1):c.414C>G (p.Ala138=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174995	NM_001061.7(TBXAS1):c.441G>C (p.Lys147Asn)	TBXAS1 (K80N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713791	NM_001061.7(TBXAS1):c.447C>T (p.Asn149=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1909589	NM_001061.7(TBXAS1):c.448G>A (p.Glu150Lys)	TBXAS1 (E151K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934325	NM_001061.7(TBXAS1):c.450G>A (p.Glu150=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1973045	NM_001061.7(TBXAS1):c.450+6A>G	TBXAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2819450	NM_001061.7(TBXAS1):c.450+16T>C	TBXAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3233575	NM_001061.7(TBXAS1):c.451-8A>G	TBXAS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2186196	NM_001061.7(TBXAS1):c.464T>A (p.Ile155Asn)	TBXAS1 (I156N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2417307	NM_001061.7(TBXAS1):c.473C>A (p.Ala158Asp)	TBXAS1 (A139D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600287	NM_001061.7(TBXAS1):c.480= (p.Asp160=)	TBXAS1	Variation (no sequence alteration)	not provided	GBenign

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