ClinVar for Gene (Select 92241) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313443	NM_052862.4(RCSD1):c.235A>G (p.Lys79Glu)	LOC126805908, RCSD1 (K49E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313442	NM_052862.4(RCSD1):c.124C>T (p.Pro42Ser)	RCSD1 (P42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313441	NM_052862.4(RCSD1):c.879A>C (p.Glu293Asp)	RCSD1 (E239D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152761	NM_052862.4(RCSD1):c.800G>A (p.Ser267Asn)	RCSD1 (S237N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152760	NM_052862.4(RCSD1):c.797G>A (p.Arg266Gln)	RCSD1 (R236Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152759	NM_052862.4(RCSD1):c.346T>C (p.Ser116Pro)	RCSD1 (S116P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152758	NM_052862.4(RCSD1):c.166C>G (p.Pro56Ala)	RCSD1 (P56A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152757	NM_052862.4(RCSD1):c.155C>A (p.Pro52His)	RCSD1 (P52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152756	NM_052862.4(RCSD1):c.1073G>A (p.Gly358Asp)	RCSD1 (G304D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2601616	NM_052862.4(RCSD1):c.851C>T (p.Ser284Leu)	RCSD1 (S284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592826	NM_052862.4(RCSD1):c.92C>T (p.Ala31Val)	RCSD1 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590267	NM_052862.4(RCSD1):c.166C>T (p.Pro56Ser)	RCSD1 (P56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555917	NM_052862.4(RCSD1):c.440C>A (p.Pro147His)	RCSD1 (P117H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469471	NM_052862.4(RCSD1):c.438G>T (p.Gln146His)	RCSD1 (Q146H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460006	NM_052862.4(RCSD1):c.392G>A (p.Arg131Gln)	RCSD1 (R131Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456519	NM_052862.4(RCSD1):c.551T>G (p.Leu184Arg)	RCSD1 (L154R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2410765	NM_052862.4(RCSD1):c.574T>C (p.Ser192Pro)	RCSD1 (S162P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398644	NM_052862.4(RCSD1):c.221A>T (p.His74Leu)	LOC126805908, RCSD1 (H44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373819	NM_052862.4(RCSD1):c.433G>A (p.Asp145Asn)	RCSD1 (D115N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357510	NM_052862.4(RCSD1):c.962G>A (p.Arg321Lys)	RCSD1 (R267K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348760	NM_052862.4(RCSD1):c.620T>G (p.Leu207Trp)	RCSD1 (L153W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342472	NM_052862.4(RCSD1):c.766G>A (p.Glu256Lys)	RCSD1 (E256K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338609	NM_052862.4(RCSD1):c.134G>A (p.Arg45Lys)	RCSD1 (R45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331475	NM_052862.4(RCSD1):c.113C>T (p.Pro38Leu)	RCSD1 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288052	NM_052862.4(RCSD1):c.656C>T (p.Ser219Phe)	RCSD1 (S189F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246393	NM_052862.4(RCSD1):c.46G>A (p.Ala16Thr)	RCSD1 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245469	NM_052862.4(RCSD1):c.568G>T (p.Val190Leu)	RCSD1 (V160L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46