ClinVar for Gene (Select 7462) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	LOC129998647, LOC129998648 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3117933	NM_032464.3(LAT2):c.641G>A (p.Arg214Lys)	LAT2 (R214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117932	NM_032464.3(LAT2):c.551C>T (p.Pro184Leu)	LAT2 (P184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117930	NM_032464.3(LAT2):c.478T>C (p.Cys160Arg)	LAT2 (C160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117929	NM_032464.3(LAT2):c.467T>C (p.Ile156Thr)	LAT2 (I156T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2685248	GRCh37/hg19 7q11.23(chr7:73142034-73690195)x1	CLDN3, ABHD11-AS1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2604502	NM_032464.3(LAT2):c.682G>A (p.Asp228Asn)	LAT2 (D228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590940	NM_032464.3(LAT2):c.391G>C (p.Asp131His)	LAT2, LOC129998628 (D131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588494	NM_032464.3(LAT2):c.184G>A (p.Gly62Arg)	LAT2 (G62R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2554337	NM_032464.3(LAT2):c.38C>T (p.Ala13Val)	LAT2 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546428	NM_032464.3(LAT2):c.228G>T (p.Arg76Ser)	LAT2 (R76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537184	NM_032464.3(LAT2):c.80G>A (p.Arg27His)	LAT2 (R27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527947	NM_032464.3(LAT2):c.209C>A (p.Ala70Glu)	LAT2 (A70E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524562	NM_032464.3(LAT2):c.530G>A (p.Gly177Asp)	LAT2 (G177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519769	NM_032464.3(LAT2):c.158C>T (p.Thr53Met)	LAT2 (T53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2267814	NM_032464.3(LAT2):c.209C>T (p.Ala70Val)	LAT2 (A70V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213446	NM_032464.3(LAT2):c.137G>A (p.Arg46His)	LAT2 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808834	GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808638	GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807825	GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807812	GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807742	GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	ABHD11-AS1, BAZ1B +25 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	BAZ1B, BUD23 +25 more	Copy number loss	See cases	GPathogenic
Select item 1703677	GRCh37/hg19 7q11.23(chr7:72686958-74155067)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703592	GRCh37/hg19 7q11.23(chr7:72921550-74145628)	ABHD11, ABHD11-AS1 +21 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341969	GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3	ABHD11, ABHD11-AS1 +22 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 988936	GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 980829	GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	ABHD11, ABHD11-AS1 +30 more	Copy number loss	not provided	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 979621	GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 929343	GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	ABHD11, ABHD11-AS1 +24 more	Copy number gain	See cases	GPathogenic
Select item 830314	Single allele	FKBP6, FZD9 +25 more	Deletion	Williams syndrome	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 635960	Single allele	ABHD11, ABHD11-AS1 +24 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635959	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635951	Single allele	ABHD11, ABHD11-AS1 +25 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 626296	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	not provided	GLikely pathogenic
Select item 625632	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625631	GRCh37/hg19 7q11.23(chr7:72700996-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625551	GRCh37/hg19 7q11.23(chr7:72721449-73959106)	ABHD11, ABHD11-AS1 +24 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563409	GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3	BAZ1B, ABHD11 +30 more	Copy number gain	not provided	GPathogenic
Select item 563406	GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1	ABHD11-AS1, GTF2IRD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563405	GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	STX1A, EIF4H +27 more	Copy number loss	not provided	GPathogenic
Select item 563403	GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	not provided	GPathogenic
Select item 563399	GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	MIR590, EIF4H +25 more	Copy number gain	not provided	GPathogenic
Select item 563398	GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3	MIR590, MLXIPL +25 more	Copy number gain	not provided	GPathogenic
Select item 563397	GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3	CLDN3, CLDN4 +25 more	Copy number gain	not provided	GPathogenic
Select item 563396	GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1	LIMK1, RFC2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563394	GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3	METTL27, ABHD11-AS1 +24 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 559583	Single allele	BCL7B, MIR590 +25 more	Duplication	Intestinal malrotation	GLikely pathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 443917	GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443819	GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 443615	GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443516	GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1	METTL27, MIR590 +25 more	Copy number loss	See cases	GPathogenic
Select item 443396	GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443244	GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 443182	GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 443008	GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3	CLDN3, ABHD11 +25 more	Copy number gain	See cases	GPathogenic
Select item 442970	GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442785	GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442651	GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442483	GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3	ABHD11, ABHD11-AS1 +26 more	Copy number gain	See cases	GPathogenic
Select item 442389	GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442280	GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1	ABHD11, ABHD11-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442230	GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1	ABHD11, ABHD11-AS1 +24 more	Copy number loss	See cases	GPathogenic
Select item 442171	GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 442110	GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic

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