25756[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3328025	NM_032174.6(TOMM40L):c.5G>T (p.Gly2Val)	TOMM40L (G2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368501	NM_032174.6(TOMM40L):c.181C>A (p.Gln61Lys)	TOMM40L (Q61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349944	NM_032174.6(TOMM40L):c.253G>A (p.Asp85Asn)	TOMM40L (D85N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548495	NM_032174.6(TOMM40L):c.304G>A (p.Asp102Asn)	LOC129931764, TOMM40L (D102N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181136	NM_032174.6(TOMM40L):c.325G>A (p.Ala109Thr)	LOC129931764, TOMM40L (A109T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291919	NM_032174.6(TOMM40L):c.336G>C (p.Leu112Phe)	LOC129931764, TOMM40L (L112F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530330	NM_032174.6(TOMM40L):c.473T>C (p.Ile158Thr)	TOMM40L (I158T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492868	NM_032174.6(TOMM40L):c.524G>A (p.Arg175Gln)	TOMM40L (R175Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328026	NM_032174.6(TOMM40L):c.731C>A (p.Thr244Lys)	TOMM40L (T210K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594844	NM_032174.6(TOMM40L):c.785G>C (p.Arg262Thr)	TOMM40L (R197T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538013	NM_032174.6(TOMM40L):c.805T>C (p.Trp269Arg)	TOMM40L (W204R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371325	NM_032174.6(TOMM40L):c.887G>A (p.Arg296His)	TOMM40L (R231H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208917	NM_032174.6(TOMM40L):c.919G>A (p.Val307Met)	TOMM40L (V273M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025652	NM_005122.5(NR1I3):c.*107T>C	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639508	NM_005122.5(NR1I3):c.*84C>T	NR1I3, TOMM40L (P258L +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 95258	NM_005122.5(NR1I3):c.*8C>T	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 3045625	NM_032174.6(TOMM40L):c.*695C>A	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +1 more)	TOMM40L-related disorder	GLikely benign
Select item 199103	NM_005122.5(NR1I3):c.1002G>T (p.Gln334His)	NR1I3, TOMM40L (Q343H +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2478206	NM_005122.5(NR1I3):c.979G>A (p.Gly327Arg)	NR1I3, TOMM40L (G327R +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 283161	NM_005122.5(NR1I3):c.978C>T (p.Tyr326=)	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GBenign
Select item 167381	NM_005122.5(NR1I3):c.939A>C (p.Leu313=)	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 167382	NM_005122.5(NR1I3):c.930G>A (p.Ala310=)	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
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 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	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

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Items: 40