11976[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2540

<< First< Prev

Page of 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150716	GRCh38/hg38 6p21.33(chr6:31980353-32041234)x3	C4A, C4B +7 more	Copy number gain	See cases	GLikely benign
Select item 152997	GRCh38/hg38 6p21.33(chr6:31980422-32041505)x1	C4A, C4B +7 more	Copy number loss	See cases	GBenign
Select item 154968	GRCh38/hg38 6p21.33(chr6:31996044-32041234)x3	LOC108004539, LOC110631417 +6 more	Copy number gain	See cases	GLikely benign
Select item 147011	GRCh38/hg38 6p21.33(chr6:31996089-32041483)x1	C4A, C4B +6 more	Copy number loss	See cases	GBenign
Select item 12154	NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)	CYP21A2, LOC106780800 +1 more (S269T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GBenign
Select item 12182	NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]	CYP21A2, LOC106780800 +1 more (V282L +11 more)	Single nucleotide variant (missense variant +2 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia +2 more	GPathogenic
Select item 12152	NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2, LOC106780800 +1 more (R357W +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +2 more	GPathogenic
Select item 256285	NM_000500.9(CYP21A2):c.1125C>T (p.Ser375=)	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1326464	NC_000006.12:g.32040823C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326144	NC_000006.12:g.32040847C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800599	NM_000500.9(CYP21A2):c.1223-21C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445854	NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)	CYP21A2, LOC106780800 +1 more (R480L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585746	NM_000500.9(CYP21A2):c.*12C>T	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1235972	NM_001365276.2(TNXB):c.*163G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GBenign
Select item 1206744	NM_001365276.2(TNXB):c.*159G>C	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 261093	NM_001365276.2(TNXB):c.*39G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 2682922	NM_001365276.2(TNXB):c.12731G>T (p.Gly4244Val)	CYP21A2, TNXB (G4242V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2383417	NM_001365276.2(TNXB):c.12728G>T (p.Gly4243Val)	CYP21A2, TNXB (G4243V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2397794	NM_001365276.2(TNXB):c.12725G>C (p.Gly4242Ala)	CYP21A2, TNXB (G4240A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3180905	NM_001365276.2(TNXB):c.12715T>C (p.Ser4239Pro)	CYP21A2, TNXB (S4239P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2136016	NM_001365276.2(TNXB):c.12712C>T (p.Arg4238Cys)	CYP21A2, TNXB (R4236C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1231280	NM_001365276.2(TNXB):c.12634-52A>G	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1264810	NM_001365276.2(TNXB):c.12634-57C>T	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183188	NM_001365276.2(TNXB):c.12634-74T>C	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1193121	NM_001365276.2(TNXB):c.12634-100G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191218	NM_001365276.2(TNXB):c.12634-124G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194012	NM_001365276.2(TNXB):c.12634-127A>G	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1284242	NM_001365276.2(TNXB):c.12633+92T>C	TNXB, LOC106780803	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310954	NM_001365276.2(TNXB):c.12628_12633+5dup	LOC106780803, TNXB	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1176191	NM_001365276.2(TNXB):c.12612C>T (p.Tyr4204=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3180904	NM_001365276.2(TNXB):c.12611A>G (p.Tyr4204Cys)	LOC106780803, TNXB (Y4202C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180903	NM_001365276.2(TNXB):c.12604G>A (p.Gly4202Arg)	LOC106780803, TNXB (G4200R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1711621	NM_001365276.2(TNXB):c.12603C>T (p.Asn4201=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193708	NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)	LOC106780803, TNXB (A4196T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1722769	NM_001365276.2(TNXB):c.12544T>A (p.Cys4182Ser)	LOC106780803, TNXB (C4180S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656439	NM_001365276.2(TNXB):c.12540C>T (p.Ile4180=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 190377	NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn)	LOC106780803, TNXB (S4175N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1219182	NM_001365276.2(TNXB):c.12528C>T (p.Asn4176=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328967	NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs)	LOC106780803, TNXB (N4174fs +2 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 190376	NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn)	LOC106780803, TNXB (D4172N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 224352	NM_001365276.2(TNXB):c.12512G>A (p.Arg4171His)	LOC106780803, TNXB (R4169H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2437170	NM_001365276.2(TNXB):c.12493G>A (p.Gly4165Ser)	LOC106780803, TNXB (G4163S +2 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 449837	NM_001365276.2(TNXB):c.12469+2T>C	LOC106780803, TNXB	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more	GUncertain significance
Select item 2632002	NM_001365276.2(TNXB):c.12437G>A (p.Arg4146His)	LOC106780803, TNXB (R4144H +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 261123	NM_001365276.2(TNXB):c.12378C>T (p.Asp4126=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2582719	NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)	LOC106780803, TNXB (D4124N +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 3037178	NM_001365276.2(TNXB):c.12356G>A (p.Arg4119His)	LOC106780803, TNXB (R4117H +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 1211154	NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu)	CYP21A2, LOC106780803 +1 more (M4116L +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 809895	NM_001365276.2(TNXB):c.12308-8A>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1273748	NM_001365276.2(TNXB):c.12307+27C>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057557	NM_001365276.2(TNXB):c.12259G>A (p.Glu4087Lys)	LOC106780803, TNXB (E4085K +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 2351257	NM_001365276.2(TNXB):c.12224G>T (p.Arg4075Leu)	LOC106780803, TNXB (R4073L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 190375	NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)	LOC106780803, TNXB (R4073H +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1309332	NM_001365276.2(TNXB):c.12223C>T (p.Arg4075Cys)	LOC106780803, TNXB (R4073C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 144112	NM_001365276.2(TNXB):c.12220C>T (p.Arg4074Cys)	LOC106780803, TNXB (R4072C +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GPathogenic
Select item 261122	NM_001365276.2(TNXB):c.12210+43T>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 261121	NM_001365276.2(TNXB):c.12210+39dup	LOC106780803, TNXB	Duplication (intron variant)	not specified	GLikely benign
Select item 1210015	NM_001365276.2(TNXB):c.12210+5G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2508939	NM_001365276.2(TNXB):c.12200G>A (p.Gly4067Asp)	LOC106780803, TNXB (G4067D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1203334	NM_001365276.2(TNXB):c.12198G>A (p.Gly4066=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 190374	NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)	LOC106780803, TNXB (C4058W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2251756	NM_001365276.2(TNXB):c.12179G>A (p.Cys4060Tyr)	LOC106780803, TNXB (C489Y +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 261120	NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)	LOC106780803, TNXB (N4055I +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign
Select item 1702306	NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2682923	NM_001365276.2(TNXB):c.12167del (p.Leu4056fs)	LOC106780803, TNXB (L4054fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1702305	NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro)	LOC106780803, TNXB (L4054P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 2392599	NM_001365276.2(TNXB):c.12161G>A (p.Arg4054Gln)	LOC106780803, TNXB (R4054Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1709403	NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)	LOC106780803, TNXB (R4052P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 261119	NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2682313	NM_001365276.2(TNXB):c.12155G>A (p.Arg4052His)	LOC106780803, TNXB (R4050H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 598088	NM_001365276.2(TNXB):c.12148G>A (p.Gly4050Ser)	LOC106780803, TNXB (G4050S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635849	NM_001365276.2(TNXB):c.12112G>T (p.Ala4038Ser)	LOC106780803, TNXB (A4036S +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3180901	NM_001365276.2(TNXB):c.12109G>A (p.Gly4037Arg)	LOC106780803, TNXB (G4037R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180900	NM_001365276.2(TNXB):c.12091G>A (p.Gly4031Arg)	LOC106780803, TNXB (G4278R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2237714	NM_001365276.2(TNXB):c.12091G>C (p.Gly4031Arg)	LOC106780803, TNXB (G4029R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1216187	NM_001365276.2(TNXB):c.12058+27G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179372	NM_001365276.2(TNXB):c.12058+15G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GLikely benign
Select item 261118	NM_001365276.2(TNXB):c.12058+11G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1676014	NM_001365276.2(TNXB):c.12058+6T>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8 +2 more	GLikely benign
Select item 3180899	NM_001365276.2(TNXB):c.12056C>T (p.Thr4019Met)	LOC106780803, TNXB (T4266M +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1176192	NM_001365276.2(TNXB):c.12053C>T (p.Thr4018Ile)	LOC106780803, TNXB (T4016I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2582761	NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)	LOC106780803, TNXB (T3993A +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1269745	NM_001365276.2(TNXB):c.11962C>A (p.Leu3988Ile)	LOC106780803, TNXB (L3986I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2573595	NM_001365276.2(TNXB):c.11925+2T>A	LOC106780803, TNXB	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GLikely pathogenic
Select item 261117	NM_001365276.2(TNXB):c.11921A>C (p.Asn3974Thr)	LOC106780803, TNXB (N3972T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3028983	NM_001365276.2(TNXB):c.11845G>A (p.Ala3949Thr)	LOC106780803, TNXB (A378T +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 1197774	NM_001365276.2(TNXB):c.11803G>A (p.Ala3935Thr)	LOC106780803, TNXB (A364T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 261116	NM_001365276.2(TNXB):c.11650+16G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261115	NM_001365276.2(TNXB):c.11650+10C>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 261114	NM_001365276.2(TNXB):c.11629G>A (p.Val3877Ile)	LOC106780803, TNXB (V306I +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2682924	NM_001365276.2(TNXB):c.11610T>A (p.Asn3870Lys)	LOC106780803, TNXB (N299K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702304	NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)	LOC106780803, TNXB (A290T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2594698	NM_001365276.2(TNXB):c.11572G>A (p.Glu3858Lys)	LOC106780803, TNXB (E3856K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180898	NM_001365276.2(TNXB):c.11555G>A (p.Arg3852His)	LOC106780803, TNXB (R3852H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2331275	NM_001365276.2(TNXB):c.11554C>T (p.Arg3852Cys)	LOC106780803, TNXB (R281C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1276205	NM_001365276.2(TNXB):c.11548C>A (p.Gln3850Lys)	LOC106780803, TNXB (Q279K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 591752	NM_001365276.2(TNXB):c.11547_11548delinsGA (p.Gln3850Lys)	LOC106780803, TNXB (Q279K +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 261113	NM_001365276.2(TNXB):c.11547A>G (p.Thr3849=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign

<< First< Prev

Page of 26