ClinVar for Gene (Select 149297) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277486	NM_001017961.5(FAM78B):c.570G>T (p.Lys190Asn)	FAM78B (K190N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277485	NM_001017961.5(FAM78B):c.194C>T (p.Thr65Ile)	FAM78B (T65I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277484	NM_001017961.5(FAM78B):c.670A>G (p.Ser224Gly)	FAM78B (S224G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092527	NM_001017961.5(FAM78B):c.467A>G (p.Asn156Ser)	FAM78B (N156S)	Single nucleotide variant (missense variant +2 more)	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 2612468	NM_001017961.5(FAM78B):c.738G>A (p.Met246Ile)	FAM78B (M246I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550630	NM_001017961.5(FAM78B):c.536C>T (p.Thr179Ile)	FAM78B (T179I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357485	NM_001017961.5(FAM78B):c.674G>A (p.Arg225Gln)	FAM78B (R225Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347638	NM_001017961.5(FAM78B):c.662G>A (p.Arg221Gln)	FAM78B (R221Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344018	NM_001017961.5(FAM78B):c.752G>A (p.Arg251Gln)	FAM78B (R251Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227178	NM_001017961.5(FAM78B):c.565A>G (p.Ile189Val)	FAM78B (I189V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225268	NM_001017961.5(FAM78B):c.374T>C (p.Val125Ala)	FAM78B (V125A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +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 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687239	GRCh37/hg19 1q24.1(chr1:165989619-166951388)x1	FAM78B, ILDR2 +2 more	Copy number loss	not provided	GUncertain significance
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 150235	GRCh38/hg38 1q24.1(chr1:166031546-166979276)x1	FAM78B, FAM78B-AS1 +33 more	Copy number loss	See cases	GUncertain significance
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 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
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31