51693[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1048366	NC_000016.10:g.(?_88813734)_(88856758_?)del	GALNS, LOC126862447 +4 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 528326	NC_000016.10:g.(?_88814419)_(88856897_?)del	GALNS, LOC126862447 +4 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 1176358	NM_000512.5(GALNS):c.120+489C>T	GALNS, TRAPPC2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289536	NM_000512.5(GALNS):c.120+46A>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2699439	NM_000512.5(GALNS):c.120+19_120+29del	GALNS, LOC130059762 +1 more	Deletion (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2904672	NM_000512.5(GALNS):c.120+20C>T	LOC130059762, GALNS +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 528327	NC_000016.10:g.(?_88856738)_(88856897_?)del	GALNS, LOC130059762 +1 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2029314	NM_000512.5(GALNS):c.120+19A>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1594462	NM_000512.5(GALNS):c.120+14G>A	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2877423	NM_000512.5(GALNS):c.120+13G>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2720647	NM_000512.5(GALNS):c.120+13G>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2139310	NM_000512.5(GALNS):c.120+13G>A	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GBenign
Select item 2910701	NM_000512.5(GALNS):c.120+12C>G	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2692962	NM_000512.5(GALNS):c.120+12C>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2753827	NM_000512.5(GALNS):c.120+9G>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2910913	NM_000512.5(GALNS):c.120+8C>G	TRAPPC2L, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 837574	NM_000512.5(GALNS):c.120+4A>G	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048370	NM_000512.5(GALNS):c.120+1G>A	GALNS, LOC130059762 +1 more	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 847816	NM_000512.5(GALNS):c.120+1G>C	TRAPPC2L, GALNS +1 more	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048369	NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)	GALNS, LOC130059762 +1 more (D40G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2432025	NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)	GALNS, LOC130059762 +1 more (D40Y)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048258	NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)	GALNS, LOC130059762 +1 more (D40N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 847815	NM_000512.5(GALNS):c.118G>C (p.Asp40His)	GALNS, LOC130059762 +1 more (D40H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1455571	NM_000512.5(GALNS):c.115_116del (p.Asp39fs)	GALNS, LOC130059762 +1 more (D39fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 870481	NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)	GALNS, LOC130059762 +1 more (D39G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1048257	NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)	GALNS, LOC130059762 +1 more (D39Y)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 808142	NM_000512.5(GALNS):c.113T>G (p.Met38Arg)	GALNS, LOC130059762 +1 more (M38R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1460783	NM_000512.5(GALNS):c.112A>C (p.Met38Leu)	GALNS, LOC130059762 +1 more (M38L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2890998	NM_000512.5(GALNS):c.111C>T (p.Leu37=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 193104	NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)	GALNS, LOC130059762 +1 more	Microsatellite (inframe_deletion +1 more)	Morquio syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1048256	NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)	GALNS, LOC130059762 +1 more (L36P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 528320	NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	GALNS, LOC130059762 +1 more (L36R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1176359	NM_000512.5(GALNS):c.106C>T (p.Leu36=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2693180	NM_000512.5(GALNS):c.105C>A (p.Leu35=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2155563	NM_000512.5(GALNS):c.105C>G (p.Leu35=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2998847	NM_000512.5(GALNS):c.102G>T (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2729269	NM_000512.5(GALNS):c.102G>C (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 709490	NM_000512.5(GALNS):c.102G>A (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2806315	NM_000512.5(GALNS):c.100C>T (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1468146	NM_000512.5(GALNS):c.100C>G (p.Leu34Val)	GALNS, LOC130059762 +1 more (L34V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 884933	NM_000512.5(GALNS):c.97A>G (p.Ile33Val)	GALNS, LOC130059762 +1 more (I33V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2985168	NM_000512.5(GALNS):c.96C>T (p.Asn32=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048255	NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)	GALNS, LOC130059762 +1 more (N32T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048254	NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)	GALNS, LOC130059762 +1 more (N32D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2776836	NM_000512.5(GALNS):c.93del (p.Asn32fs)	GALNS, LOC130059762 +1 more (N32fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2831370	NC_000016.10:g.88856801_88856960del	GALNS, LOC130059762 +1 more	Deletion (genic upstream transcript variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1643967	NM_000512.5(GALNS):c.90C>G (p.Pro30=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 884934	NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)	GALNS, LOC130059762 +1 more (P30L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2913973	NM_000512.5(GALNS):c.87G>A (p.Gln29=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048253	NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)	GALNS, LOC130059762 +1 more (Q29*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2785603	NM_000512.5(GALNS):c.84G>C (p.Pro28=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2848076	NM_000512.5(GALNS):c.81C>T (p.Ala27=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048252	NM_000512.5(GALNS):c.77dup (p.Ala27fs)	GALNS, LOC130059762 +1 more (A27fs)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1038770	NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)	GALNS, LOC130059762 +1 more (G26D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2419818	NM_000512.5(GALNS):c.75G>C (p.Ser25=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048251	NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)	GALNS, LOC130059762 +1 more (G23R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 916230	NM_000512.5(GALNS):c.66G>A (p.Met22Ile)	GALNS, LOC130059762 +1 more (M22I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 843497	NM_000512.5(GALNS):c.66G>T (p.Met22Ile)	GALNS, LOC130059762 +1 more (M22I)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2752824	NM_000512.5(GALNS):c.63G>T (p.Gly21=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2883150	NM_000512.5(GALNS):c.60G>A (p.Ala20=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 321211	NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)	GALNS, LOC130059762 +1 more (S18T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1353265	NM_000512.5(GALNS):c.47T>G (p.Val16Gly)	GALNS, LOC130059762 +1 more (V16G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 202175	NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	TRAPPC2L, GALNS +1 more (V16E)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1984427	NM_000512.5(GALNS):c.46G>T (p.Val16Leu)	GALNS, LOC130059762 +1 more (V16L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2839160	NM_000512.5(GALNS):c.45G>A (p.Leu15=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048250	NM_000512.5(GALNS):c.43C>A (p.Leu15Met)	GALNS, LOC130059762 +1 more (L15M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2802798	NM_000512.5(GALNS):c.42G>A (p.Leu14=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1561410	NM_000512.5(GALNS):c.39G>A (p.Leu13=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048249	NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)	GALNS, LOC130059762 +1 more (Q12*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2432028	NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)	GALNS, LOC130059762 +1 more (W11R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048248	NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)	GALNS, LOC130059762 +1 more (W10*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2746830	NM_000512.5(GALNS):c.24G>C (p.Thr8=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign

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