ClinVar for Gene (Select 5451) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216897	NM_002697.4(POU2F1):c.887G>A (p.Arg296Gln)	POU2F1 (R233Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216894	NM_002697.4(POU2F1):c.676C>T (p.Pro226Ser)	POU2F1 (P215S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216893	NM_002697.4(POU2F1):c.1736C>T (p.Pro579Leu)	POU2F1 (P516L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216892	NM_002697.4(POU2F1):c.1591G>A (p.Val531Met)	POU2F1 (V468M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216891	NM_002697.4(POU2F1):c.1217G>T (p.Arg406Leu)	POU2F1 (R395L +3 more)	Single nucleotide variant (missense variant +1 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 2620934	NM_002697.4(POU2F1):c.311C>T (p.Ser104Leu)	POU2F1 (S79L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617397	NM_002697.4(POU2F1):c.577A>C (p.Ile193Leu)	POU2F1 (I168L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559266	NM_002697.4(POU2F1):c.2030A>G (p.Asp677Gly)	POU2F1 (D677G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459801	NM_002697.4(POU2F1):c.1130A>G (p.Glu377Gly)	POU2F1 (E314G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398542	NM_002697.4(POU2F1):c.898C>T (p.Pro300Ser)	POU2F1 (P237S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384966	NM_002697.4(POU2F1):c.1186A>G (p.Ile396Val)	POU2F1 (I333V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360384	NM_002697.4(POU2F1):c.814C>G (p.Pro272Ala)	POU2F1 (P209A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352928	NM_002697.4(POU2F1):c.746C>T (p.Thr249Met)	POU2F1 (T249M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348994	NM_002697.4(POU2F1):c.2263G>C (p.Ala755Pro)	POU2F1 (A692P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341902	NM_002697.4(POU2F1):c.19G>C (p.Ala7Pro)	POU2F1 (A7P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332682	NM_002697.4(POU2F1):c.2068G>A (p.Ala690Thr)	POU2F1 (A665T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320040	NM_002697.4(POU2F1):c.721C>G (p.Leu241Val)	POU2F1 (L241V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318577	NM_002697.4(POU2F1):c.115G>A (p.Asp39Asn)	POU2F1 (D28N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271654	NM_002697.4(POU2F1):c.529T>A (p.Ser177Thr)	POU2F1 (S152T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256839	NM_002697.4(POU2F1):c.1670C>T (p.Thr557Ile)	POU2F1 (T494I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255916	NM_002697.4(POU2F1):c.62A>G (p.Asp21Gly)	POU2F1 (D10G +1 more)	Single nucleotide variant (missense variant +2 more)	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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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 777940	NM_002697.4(POU2F1):c.279A>G (p.Val93=)	POU2F1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 752489	NM_002697.4(POU2F1):c.282+10G>A	POU2F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718797	NM_002697.4(POU2F1):c.826A>G (p.Thr276Ala)	POU2F1 (T276A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 708859	NM_002697.4(POU2F1):c.2233T>C (p.Ser745Pro)	POU2F1 (S682P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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 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: 44