4010[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 7012	NC_000009.12:g.(126507040_126613928)_(126701032_126804072)del	LOC130002616, LMX1B +13 more	Deletion	Nail-patella syndrome	GPathogenic
Select item 144208	GRCh38/hg38 9q33.3(chr9:126517522-126646975)x3	LMX1B, LMX1B-DT +2 more	Copy number gain	See cases	GUncertain significance
Select item 913690	NM_001174147.2(LMX1B):c.-12G>T	LMX1B	Single nucleotide variant (5 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 364875	NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala)	LMX1B (P7A)	Single nucleotide variant (missense variant)	Nail-patella syndrome +1 more	GLikely benign
Select item 3119454	NM_001174147.2(LMX1B):c.20C>G (p.Pro7Arg)	LMX1B (P7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1475046	NM_001174147.2(LMX1B):c.22G>A (p.Glu8Lys)	LMX1B (E8K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1718454	NM_001174147.2(LMX1B):c.36G>T (p.Arg12Ser)	LMX1B (R12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811535	NM_001174147.2(LMX1B):c.42C>T (p.Phe14=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959083	NM_001174147.2(LMX1B):c.51G>A (p.Gly17=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 364876	NM_001174147.2(LMX1B):c.57G>A (p.Thr19=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2630445	NM_001174147.2(LMX1B):c.58G>A (p.Asp20Asn)	LMX1B (D20N)	Single nucleotide variant (missense variant)	LMX1B-related disorder +1 more	GUncertain significance
Select item 1963646	NM_001174147.2(LMX1B):c.60C>T (p.Asp20=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803851	NM_001174147.2(LMX1B):c.64G>A (p.Ala22Thr)	LMX1B (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975471	NM_001174147.2(LMX1B):c.82A>G (p.Ile28Val)	LMX1B (I28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914082	NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys)	LMX1B (E32K)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 1603407	NM_001174147.2(LMX1B):c.99C>T (p.His33=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762805	NM_001174147.2(LMX1B):c.103C>T (p.Leu35=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419247	NM_001174147.2(LMX1B):c.109C>T (p.Pro37Ser)	LMX1B (P37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2238801	NM_001174147.2(LMX1B):c.115C>G (p.Pro39Ala)	LMX1B (P39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973862	NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)	LMX1B (P39S)	Single nucleotide variant (missense variant)	Nail-patella syndrome +1 more	GUncertain significance
Select item 2129728	NM_001174147.2(LMX1B):c.130dup (p.Val44fs)	LMX1B (V44fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1027208	NM_001174147.2(LMX1B):c.130G>A (p.Val44Met)	LMX1B (V44M)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 427734	NM_001174147.2(LMX1B):c.139+5G>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 258621	NM_001174147.2(LMX1B):c.139+19C>T	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome +3 more	GBenign/Likely benign
Select item 1230698	NM_001174147.2(LMX1B):c.139+209C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225663	NM_001174147.2(LMX1B):c.139+295G>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262332	NM_001174147.2(LMX1B):c.140-266A>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7011	NM_001174147.2(LMX1B):c.140-37_140-21del	LMX1B	Deletion (intron variant)	Nail-patella syndrome	GPathogenic
Select item 1920791	NM_001174147.2(LMX1B):c.140-15C>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961441	NM_001174147.2(LMX1B):c.140-14C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961278	NM_001174147.2(LMX1B):c.140-13C>T	LMX1B	Single nucleotide variant (intron variant)	LMX1B-related disorder +1 more	GLikely benign
Select item 2764771	NM_001174147.2(LMX1B):c.140-12T>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816338	NM_001174147.2(LMX1B):c.140-5T>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 914083	NM_001174147.2(LMX1B):c.140-4A>G	LMX1B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2030791	NM_001174147.2(LMX1B):c.140-3C>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2824157	NC_000009.12:g.126615383del	LMX1B	Deletion	not provided	GPathogenic
Select item 2735326	NM_001174147.2(LMX1B):c.140-1G>A	LMX1B	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3119453	NM_001174147.2(LMX1B):c.140G>C (p.Gly47Ala)	LMX1B (G47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1005016	NM_001174147.2(LMX1B):c.157C>G (p.Pro53Ala)	LMX1B (P53A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968964	NM_001174147.2(LMX1B):c.162C>T (p.Ala54=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 827646	NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)	LMX1B (E57*)	Single nucleotide variant (nonsense)	Nail-patella syndrome +1 more	GPathogenic
Select item 2136808	NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)	LMX1B (C59R)	Single nucleotide variant (missense variant)	LMX1B-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 438683	NM_001174147.2(LMX1B):c.176G>T (p.Cys59Phe)	LMX1B (C59F)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 1457453	NM_001174147.2(LMX1B):c.178C>T (p.Gln60Ter)	LMX1B (Q60*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1612241	NM_001174147.2(LMX1B):c.180G>A (p.Gln60=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348648	NM_001174147.2(LMX1B):c.182G>C (p.Arg61Pro)	LMX1B (R61P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2520898	NM_001174147.2(LMX1B):c.184C>T (p.Pro62Ser)	LMX1B (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1113360	NM_001174147.2(LMX1B):c.186C>T (p.Pro62=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 369955	NM_001174147.2(LMX1B):c.192dup (p.Asp65fs)	LMX1B (D65fs)	Duplication (frameshift variant)	Nail-patella syndrome	GLikely pathogenic
Select item 1125817	NM_001174147.2(LMX1B):c.192C>G (p.Ser64=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815294	NM_001174147.2(LMX1B):c.193G>T (p.Asp65Tyr)	LMX1B (D65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452363	NM_001174147.2(LMX1B):c.207dup (p.Arg70fs)	LMX1B (R70fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1457454	NM_001174147.2(LMX1B):c.208C>T (p.Arg70Ter)	LMX1B (R70*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2881766	NM_001174147.2(LMX1B):c.209G>A (p.Arg70Gln)	LMX1B (R70Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754663	NM_001174147.2(LMX1B):c.209del (p.Arg70fs)	LMX1B (R70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1920345	NM_001174147.2(LMX1B):c.217G>C (p.Glu73Gln)	LMX1B (E73Q)	Single nucleotide variant (missense variant)	LMX1B-related disorder +1 more	GUncertain significance
Select item 1917889	NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)	LMX1B (E73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1453257	NM_001174147.2(LMX1B):c.217del (p.Glu73fs)	LMX1B (E73fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2636986	NM_001174147.2(LMX1B):c.221C>A (p.Ser74Ter)	LMX1B (S74*)	Single nucleotide variant (nonsense)	LMX1B-related disorder	GPathogenic
Select item 1391497	NM_001174147.2(LMX1B):c.221C>T (p.Ser74Leu)	LMX1B (S74L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236102	NM_001174147.2(LMX1B):c.224C>T (p.Ser75Phe)	LMX1B (S75F)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease	GUncertain significance
Select item 2873007	NM_001174147.2(LMX1B):c.224C>G (p.Ser75Cys)	LMX1B (S75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379916	NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly)	LMX1B (W76G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 265489	NM_001174147.2(LMX1B):c.227G>A (p.Trp76Ter)	LMX1B (W76*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 774202	NM_001174147.2(LMX1B):c.231C>T (p.His77=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038129	NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)	LMX1B (E78*)	Single nucleotide variant (nonsense)	LMX1B-related disorder	GPathogenic
Select item 1461567	NM_001174147.2(LMX1B):c.232G>A (p.Glu78Lys)	LMX1B (E78K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870908	NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter)	LMX1B (E79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1522456	NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp)	LMX1B (E79D)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1406073	NM_001174147.2(LMX1B):c.238T>C (p.Cys80Arg)	LMX1B (C80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054038	NM_001174147.2(LMX1B):c.242T>G (p.Leu81Trp)	LMX1B (L81W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7005	NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)	LMX1B (Q82*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2735328	NM_001174147.2(LMX1B):c.247T>C (p.Cys83Arg)	LMX1B (C83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129237	NM_001174147.2(LMX1B):c.249C>G (p.Cys83Trp)	LMX1B (C83W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2826708	NM_001174147.2(LMX1B):c.253G>T (p.Ala85Ser)	LMX1B (A85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982653	NM_001174147.2(LMX1B):c.253G>A (p.Ala85Thr)	LMX1B (A85T)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 2075616	NM_001174147.2(LMX1B):c.255G>C (p.Ala85=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118198	NM_001174147.2(LMX1B):c.255G>A (p.Ala85=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2694941	NM_001174147.2(LMX1B):c.256T>A (p.Cys86Ser)	LMX1B (C86S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2418959	NM_001174147.2(LMX1B):c.259_304del (p.Gln87fs)	LMX1B (Q87fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2023898	NM_001174147.2(LMX1B):c.257G>C (p.Cys86Ser)	LMX1B (C86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432312	NM_001174147.2(LMX1B):c.257G>A (p.Cys86Tyr)	LMX1B (C86Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2113998	NM_001174147.2(LMX1B):c.258T>A (p.Cys86Ter)	LMX1B (C86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2502373	NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)	LMX1B (Q87*)	Single nucleotide variant (nonsense)	Nail-patella syndrome	GPathogenic

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