ClinVar for Gene (Select 26012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356566	NM_001130969.3(NSMF):c.418C>T (p.Arg140Cys)	NSMF (R140C)	Single nucleotide variant (missense variant)	NSMF-related disorder	GUncertain significance
Select item 3301172	NM_001130969.3(NSMF):c.73G>A (p.Ala25Thr)	NSMF (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238720	GRCh38/hg38 9q34.3(chr9:137456472-138100471)	ARRDC1, ARRDC1-AS1 +52 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238711	GRCh38/hg38 9q34.3(chr9:137375729-137696525)	ARRDC1, ARRDC1-AS1 +44 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238691	GRCh38/hg38 9q34.3(chr9:137456472-137656656)	ARRDC1, ARRDC1-AS1 +27 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238685	GRCh38/hg38 9q34.3(chr9:137423394-137619049)	ARRDC1, ARRDC1-AS1 +32 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238676	GRCh38/hg38 9q34.3(chr9:137272928-137711050)	ARRDC1, ARRDC1-AS1 +71 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3235192	NM_001130969.3(NSMF):c.919G>C (p.Asp307His)	NSMF (D282H +3 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 3202398	NM_001130969.3(NSMF):c.967G>A (p.Glu323Lys)	NSMF (E298K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202397	NM_001130969.3(NSMF):c.914C>T (p.Ser305Phe)	NSMF (S303F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202396	NM_001130969.3(NSMF):c.743G>C (p.Arg248Pro)	NSMF (R246P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202395	NM_001130969.3(NSMF):c.743G>A (p.Arg248Gln)	NSMF (R246Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202394	NM_001130969.3(NSMF):c.539G>A (p.Arg180Gln)	NSMF (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202393	NM_001130969.3(NSMF):c.410A>G (p.Gln137Arg)	NSMF (Q137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202392	NM_001130969.3(NSMF):c.1552C>T (p.Arg518Cys)	LOC126860797, NSMF (R493C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202391	NM_001130969.3(NSMF):c.1189G>A (p.Val397Ile)	NSMF (V397I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202390	NM_001130969.3(NSMF):c.1030G>A (p.Val344Met)	NSMF (V344M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3052015	NM_001130969.3(NSMF):c.629-22C>T	NSMF	Single nucleotide variant (intron variant)	NSMF-related disorder	GLikely benign
Select item 3046439	NM_001130969.3(NSMF):c.228C>T (p.Asn76=)	NSMF	Single nucleotide variant (synonymous variant)	NSMF-related disorder	GLikely benign
Select item 3045033	NM_001130969.3(NSMF):c.299G>A (p.Arg100Gln)	NSMF (R100Q)	Single nucleotide variant (missense variant)	NSMF-related disorder	GUncertain significance
Select item 3038459	NM_001130969.3(NSMF):c.1132-32G>A	NSMF	Single nucleotide variant (intron variant)	NSMF-related disorder	GLikely benign
Select item 3028975	NM_001130969.3(NSMF):c.690C>A (p.Thr230=)	NSMF	Single nucleotide variant (synonymous variant)	NSMF-related disorder	GLikely benign
Select item 3026059	NM_001130969.3(NSMF):c.165C>T (p.His55=)	NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004282	NM_001130969.3(NSMF):c.780-3dup	NSMF	Duplication (intron variant)	not provided	GBenign
Select item 2981044	NM_001130969.3(NSMF):c.1237-11G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2961956	NM_001130969.3(NSMF):c.732G>C (p.Glu244Asp)	NSMF (E242D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959351	NM_001130969.3(NSMF):c.1237-20C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956713	NM_001130969.3(NSMF):c.922+11del	NSMF	Deletion (intron variant)	not provided	GBenign
Select item 2907448	NM_001130969.3(NSMF):c.1212C>T (p.Ile404=)	NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851367	NM_001130969.3(NSMF):c.909C>T (p.His303=)	NSMF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821997	NM_001130969.3(NSMF):c.728C>G (p.Ala243Gly)	NSMF (A241G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776652	NM_001130969.3(NSMF):c.1350A>G (p.Lys450=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759259	NM_001130969.3(NSMF):c.1165+8C>T	NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735381	NM_001130969.3(NSMF):c.587G>A (p.Arg196His)	NSMF (R196H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690963	NM_001130969.3(NSMF):c.710+1G>A	NSMF	Single nucleotide variant (intron variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2681448	NM_001130969.3(NSMF):c.285G>C (p.Glu95Asp)	NSMF (E95D)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2610586	NM_001130969.3(NSMF):c.122G>A (p.Arg41His)	NSMF (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576638	GRCh37/hg19 9q34.3(chr9:140351824-140772481)x3	ARRDC1, CACNA1B +7 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576635	GRCh37/hg19 9q34.3(chr9:140277524-140762652)x3	DPH7, NSMF +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576634	GRCh37/hg19 9q34.3(chr9:140327663-140756825)x3	ARRDC1, DPH7 +8 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576633	GRCh37/hg19 9q34.3(chr9:140233379-140756825)x3	ZMYND19, ARRDC1 +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2575763	NM_001130969.3(NSMF):c.379C>T (p.Arg127Trp)	NSMF (R127W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574988	NM_001130969.3(NSMF):c.886C>T (p.Pro296Ser)	NSMF (P271S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2536253	NM_001130969.3(NSMF):c.31C>A (p.Leu11Met)	LOC130003121, NSMF (L11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534360	NM_001130969.3(NSMF):c.11C>T (p.Ala4Val)	LOC130003121, NSMF (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488642	NM_001130969.3(NSMF):c.452G>T (p.Ser151Ile)	NSMF (S151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482996	NM_001130969.3(NSMF):c.1585G>T (p.Val529Phe)	LOC126860797, NSMF (V504F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474279	NM_001130969.3(NSMF):c.1393A>G (p.Ile465Val)	LOC126860797, NSMF (I463V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434447	NM_001130969.3(NSMF):c.194C>A (p.Pro65His)	NSMF (P65H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	DPH7, MRPL41 +28 more	Deletion	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2421591	NM_001130969.3(NSMF):c.1019C>T (p.Thr340Ile)	NSMF (T310I +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2405673	NM_001130969.3(NSMF):c.209G>A (p.Arg70His)	NSMF (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395445	NM_001130969.3(NSMF):c.187C>T (p.Pro63Ser)	NSMF (P63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363912	NM_001130969.3(NSMF):c.894A>C (p.Lys298Asn)	NSMF (K296N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331395	NM_001130969.3(NSMF):c.1100G>A (p.Arg367Gln)	NSMF (R337Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326702	NM_001130969.3(NSMF):c.1430A>G (p.Asn477Ser)	LOC126860797, NSMF (N447S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265662	NM_001130969.3(NSMF):c.580G>T (p.Gly194Cys)	NSMF (G194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264325	NM_001130969.3(NSMF):c.848G>A (p.Arg283His)	NSMF (R260H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245233	NM_001130969.3(NSMF):c.950C>T (p.Thr317Met)	NSMF (T292M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237510	NM_001130969.3(NSMF):c.1585G>A (p.Val529Ile)	LOC126860797, NSMF (V504I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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