ClinVar for Gene (Select 51319) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338217	NM_001271838.2(RSRC1):c.109C>T (p.Arg37Ter)	RSRC1 (R37*)	Single nucleotide variant (nonsense)	Autism	GPathogenic
Select item 3315593	NM_001271838.2(RSRC1):c.337C>T (p.Arg113Cys)	RSRC1 (R113C)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 3156776	NM_001271838.2(RSRC1):c.272G>A (p.Gly91Glu)	RSRC1 (G91E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3041641	NM_001271838.2(RSRC1):c.62G>A (p.Arg21His)	RSRC1 (R21H)	Single nucleotide variant (missense variant)	RSRC1-related disorder	GLikely benign
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 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654255	NM_001271838.2(RSRC1):c.129A>G (p.Lys43=)	RSRC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2579470	NM_001271838.2(RSRC1):c.652+1G>A	RSRC1	Single nucleotide variant (splice donor variant)	not provided	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 2549728	NM_001271838.2(RSRC1):c.170C>A (p.Pro57His)	RSRC1 (P57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2469801	NM_001271838.2(RSRC1):c.172C>T (p.Arg58Cys)	RSRC1 (R58C)	Single nucleotide variant (missense variant)	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 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 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 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 2332358	NM_001271838.2(RSRC1):c.197G>T (p.Arg66Leu)	RSRC1 (R66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2255044	NM_001271838.2(RSRC1):c.265G>A (p.Gly89Ser)	RSRC1 (G89S)	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 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1801445	NM_001271838.2(RSRC1):c.652+16796_652+16797insCTCTTTATATAGTCTATATCTATAATTACTATACTATATT	RSRC1	Insertion (intron variant)	Schizophrenia	GUncertain significance
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 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 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 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 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	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
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 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 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	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 985669	NM_001271838.2(RSRC1):c.495-2A>G	RSRC1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 985668	NM_001271838.2(RSRC1):c.194+1G>A	RSRC1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	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 626266	NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter)	RSRC1 (R69*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +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	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150624	GRCh38/hg38 3q25.32(chr3:158209010-158465583)x0	LOC110121092, LOC129389154 +3 more	Copy number loss	See cases	GUncertain significance
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 72