ClinVar for Gene (Select 84944) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292563	NM_032858.3(MAEL):c.1255C>G (p.Pro419Ala)	MAEL (P363A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292562	NM_032858.3(MAEL):c.1163T>C (p.Val388Ala)	MAEL (V388A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122022	NM_032858.3(MAEL):c.971C>T (p.Pro324Leu)	MAEL (P324L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122020	NM_032858.3(MAEL):c.872T>C (p.Ile291Thr)	MAEL (I235T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122019	NM_032858.3(MAEL):c.763C>A (p.Gln255Lys)	MAEL (Q224K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122018	NM_032858.3(MAEL):c.617A>T (p.Asn206Ile)	MAEL (N206I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122017	NM_032858.3(MAEL):c.58C>G (p.Pro20Ala)	LOC126805904, MAEL (P20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122016	NM_032858.3(MAEL):c.373G>A (p.Glu125Lys)	MAEL (E125K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122015	NM_032858.3(MAEL):c.175C>G (p.Arg59Gly)	LOC126805904, MAEL (R3G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024484	NM_032858.3(MAEL):c.908+1G>C	MAEL	Single nucleotide variant (splice donor variant)	Male infertility	GLikely pathogenic
Select item 3024483	NM_032858.3(MAEL):c.799C>T (p.Arg267Ter)	MAEL (R211* +2 more)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
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 2554576	NM_032858.3(MAEL):c.275A>G (p.Gln92Arg)	MAEL (Q61R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553537	NM_032858.3(MAEL):c.553A>C (p.Asn185His)	MAEL (N129H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538640	NM_032858.3(MAEL):c.146A>G (p.Glu49Gly)	LOC126805904, MAEL (E49G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2476276	NM_032858.3(MAEL):c.1108A>G (p.Thr370Ala)	MAEL (T339A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462590	NM_032858.3(MAEL):c.494G>A (p.Arg165Gln)	MAEL (R109Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400851	NM_032858.3(MAEL):c.1205A>G (p.Asn402Ser)	MAEL (N346S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327644	NM_032858.3(MAEL):c.10C>T (p.Arg4Cys)	LOC126805904, MAEL (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274660	NM_032858.3(MAEL):c.287C>T (p.Pro96Leu)	MAEL (P96L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273326	NM_032858.3(MAEL):c.951G>C (p.Gln317His)	MAEL (Q286H +2 more)	Single nucleotide variant (missense variant)	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 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 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 780787	NM_032858.3(MAEL):c.635C>A (p.Pro212His)	MAEL (P181H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777103	NM_032858.3(MAEL):c.398G>A (p.Arg133His)	MAEL (R133H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
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

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Links from Gene

Items: 41