24152[HGNC] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 1341492	NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile)	RSRC1 (M1I)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 2313850	NM_001271838.2(RSRC1):c.10C>T (p.Arg4Trp)	RSRC1 (R4W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1285536	NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln)	RSRC1 (R4Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 70	GUncertain significance
Select item 3041641	NM_001271838.2(RSRC1):c.62G>A (p.Arg21His)	RSRC1 (R21H)	Single nucleotide variant (missense variant)	RSRC1-related disorder	GLikely benign
Select item 2654255	NM_001271838.2(RSRC1):c.129A>G (p.Lys43=)	RSRC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549728	NM_001271838.2(RSRC1):c.170C>A (p.Pro57His)	RSRC1 (P57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469801	NM_001271838.2(RSRC1):c.172C>T (p.Arg58Cys)	RSRC1 (R58C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985668	NM_001271838.2(RSRC1):c.194+1G>A	RSRC1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1030571	NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys)	RSRC1 (R66C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 70	GUncertain significance
Select item 2332358	NM_001271838.2(RSRC1):c.197G>T (p.Arg66Leu)	RSRC1 (R66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 626266	NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter)	RSRC1 (R69*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2545018	NM_001271838.2(RSRC1):c.224C>T (p.Ser75Phe)	RSRC1 (S75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221756	NM_001271838.2(RSRC1):c.262A>G (p.Arg88Gly)	RSRC1 (R88G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255044	NM_001271838.2(RSRC1):c.265G>A (p.Gly89Ser)	RSRC1 (G89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 626265	NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)	RSRC1 (R90*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 3156776	NM_001271838.2(RSRC1):c.272G>A (p.Gly91Glu)	RSRC1 (G91E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035452	NM_001271838.2(RSRC1):c.283A>G (p.Arg95Gly)	RSRC1 (R95G)	Single nucleotide variant (missense variant)	RSRC1-related disorder	GBenign
Select item 2604566	NM_001271838.2(RSRC1):c.289C>G (p.Gln97Glu)	RSRC1 (Q97E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 3064117	NM_001271838.2(RSRC1):c.332del (p.Arg111fs)	RSRC1 (R111fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GLikely pathogenic
Select item 2578110	NM_001271838.2(RSRC1):c.344G>A (p.Arg115His)	RSRC1 (R115H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2341717	NM_001271838.2(RSRC1):c.355C>T (p.Arg119Cys)	RSRC1 (R119C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592061	NM_001271838.2(RSRC1):c.394C>T (p.Arg132Trp)	RSRC1 (R132W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353917	NM_001271838.2(RSRC1):c.401G>A (p.Arg134Gln)	RSRC1 (R134Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370476	NM_001271838.2(RSRC1):c.415C>T (p.Arg139Cys)	RSRC1 (R139C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341490	NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs)	RSRC1 (E150fs)	Microsatellite (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 1176472	NM_001271838.2(RSRC1):c.451A>C (p.Lys151Gln)	RSRC1 (K151Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2368703	NM_001271838.2(RSRC1):c.491G>A (p.Arg164His)	RSRC1 (R164H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 150624	GRCh38/hg38 3q25.32(chr3:158209010-158465583)x0	LOC110121092, LOC129389154 +3 more	Copy number loss	See cases	GUncertain significance
Select item 985669	NM_001271838.2(RSRC1):c.495-2A>G	RSRC1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 1341491	NM_001271838.2(RSRC1):c.532-1G>A	RSRC1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 3156777	NM_001271838.2(RSRC1):c.580G>A (p.Ala194Thr)	RSRC1 (A136T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156778	NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly)	RSRC1 (R155G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156779	NM_001271838.2(RSRC1):c.646G>C (p.Glu216Gln)	RSRC1 (E216Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579470	NM_001271838.2(RSRC1):c.652+1G>A	RSRC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1801445	NM_001271838.2(RSRC1):c.652+16796_652+16797insCTCTTTATATAGTCTATATCTATAATTACTATACTATATT	RSRC1	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 149924	GRCh38/hg38 3q25.32(chr3:158522751-158602792)x3	MLF1, MLF1-DT +2 more	Copy number gain	See cases	GLikely benign
Select item 3156780	NM_001271838.2(RSRC1):c.743G>A (p.Ser248Asn)	RSRC1 (S190N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156781	NM_001271838.2(RSRC1):c.827C>T (p.Pro276Leu)	RSRC1 (P276L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527051	GRCh37/hg19 3q25.32(chr3:158060351-158665225)	GFM1, LXN +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980543	GRCh37/hg19 3q25.32(chr3:157666169-158146714)x3	SHOX2, RSRC1	Copy number gain	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 688198	GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3	GFM1, IQCJ +6 more	Copy number gain	not provided	GUncertain significance
Select item 687669	GRCh37/hg19 3q25.32(chr3:158209613-158255406)x1	RSRC1	Copy number loss	not provided	GUncertain significance
Select item 687668	GRCh37/hg19 3q25.32(chr3:158209613-158255406)x1	RSRC1	Copy number loss	not provided	GUncertain significance
Select item 687064	GRCh37/hg19 3q25.32(chr3:157620773-158351532)x1	MLF1, RSRC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686474	GRCh37/hg19 3q25.32(chr3:157542717-158388665)x3	GFM1, LXN +3 more	Copy number gain	not provided	GUncertain significance
Select item 562832	GRCh37/hg19 3q25.32(chr3:158064908-158180957)x1	RSRC1	Copy number loss	not provided	GUncertain significance
Select item 562831	GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3	MFSD1, MLF1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562830	GRCh37/hg19 3q25.32(chr3:157947560-158006050)x1	RSRC1	Copy number loss	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 394381	GRCh37/hg19 3q25.32(chr3:158006083-158183313)x3	RSRC1	Copy number gain	See cases	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 70