9102[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 3035988	NM_020911.2(PLXNA4):c.*6G>A	PLXNA4	Single nucleotide variant (3 prime UTR variant)	PLXNA4-related disorder	GLikely benign
Select item 3036086	NM_020911.2(PLXNA4):c.*5C>T	PLXNA4	Single nucleotide variant (3 prime UTR variant)	PLXNA4-related disorder	GLikely benign
Select item 3061667	NM_020911.2(PLXNA4):c.5670G>A (p.Met1890Ile)	PLXNA4 (M1890I)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3031942	NM_020911.2(PLXNA4):c.5649A>C (p.Leu1883=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3044029	NM_020911.2(PLXNA4):c.5636T>G (p.Leu1879Arg)	PLXNA4 (L1879R)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3358142	NM_020911.2(PLXNA4):c.5614G>A (p.Asp1872Asn)	PLXNA4 (D1872N)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3060996	NM_020911.2(PLXNA4):c.5613T>C (p.Asp1871=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GBenign
Select item 2634045	NM_020911.2(PLXNA4):c.5611G>A (p.Asp1871Asn)	PLXNA4 (D1871N)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3351612	NM_020911.2(PLXNA4):c.5610C>T (p.His1870=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3041401	NM_020911.2(PLXNA4):c.5608C>T (p.His1870Tyr)	PLXNA4 (H1870Y)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GBenign
Select item 3354704	NM_020911.2(PLXNA4):c.5595T>C (p.Leu1865=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3349901	NM_020911.2(PLXNA4):c.5593C>T (p.Leu1865Phe)	PLXNA4 (L1865F)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3054062	NM_020911.2(PLXNA4):c.5590-4G>A	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3054243	NM_020911.2(PLXNA4):c.5590-5C>T	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3060928	NM_020911.2(PLXNA4):c.5590-10C>T	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GBenign
Select item 3353355	NM_020911.2(PLXNA4):c.5587G>C (p.Glu1863Gln)	PLXNA4 (E1863Q)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3353304	NM_020911.2(PLXNA4):c.5584G>A (p.Glu1862Lys)	PLXNA4 (E1862K)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3041340	NM_020911.2(PLXNA4):c.5574C>A (p.Gly1858=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3048341	NM_020911.2(PLXNA4):c.5564C>T (p.Ser1855Phe)	PLXNA4 (S1855F)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GLikely benign
Select item 3059020	NM_020911.2(PLXNA4):c.5547A>G (p.Ala1849=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GBenign
Select item 2635717	NM_020911.2(PLXNA4):c.5539A>G (p.Met1847Val)	PLXNA4 (M1847V)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3032706	NM_020911.2(PLXNA4):c.5513G>A (p.Arg1838Gln)	PLXNA4 (R1838Q)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3355825	NM_020911.2(PLXNA4):c.5512C>T (p.Arg1838Trp)	PLXNA4 (R1838W)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3349446	NM_020911.2(PLXNA4):c.5496C>T (p.Tyr1832=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3349529	NM_020911.2(PLXNA4):c.5492C>G (p.Ala1831Gly)	PLXNA4 (A1831G)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3350888	NM_020911.2(PLXNA4):c.5491G>A (p.Ala1831Thr)	PLXNA4 (A1831T)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3031715	NM_020911.2(PLXNA4):c.5490C>T (p.Asn1830=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3353841	NM_020911.2(PLXNA4):c.5484C>T (p.Asp1828=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3055192	NM_020911.2(PLXNA4):c.5475C>T (p.Ser1825=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3356387	NM_020911.2(PLXNA4):c.5439-6C>G	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3346286	NM_020911.2(PLXNA4):c.5438G>A (p.Arg1813Lys)	PLXNA4 (R1813K)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3354341	NM_020911.2(PLXNA4):c.5421C>T (p.Tyr1807=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3029697	NM_020911.2(PLXNA4):c.5363G>A (p.Arg1788Gln)	PLXNA4 (R1788Q)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3356248	NM_020911.2(PLXNA4):c.5361C>T (p.His1787=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3357225	NM_020911.2(PLXNA4):c.5352G>A (p.Thr1784=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3054916	NM_020911.2(PLXNA4):c.5352G>T (p.Thr1784=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3348654	NM_020911.2(PLXNA4):c.5331C>T (p.Thr1777=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3048442	NM_020911.2(PLXNA4):c.5304C>T (p.Asp1768=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3054994	NM_020911.2(PLXNA4):c.5265G>A (p.Pro1755=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3357749	NM_020911.2(PLXNA4):c.5259G>A (p.Lys1753=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3349004	NM_020911.2(PLXNA4):c.5232C>T (p.Pro1744=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3054566	NM_020911.2(PLXNA4):c.5226-4G>A	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3052136	NM_020911.2(PLXNA4):c.5226-5C>T	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3355665	NM_020911.2(PLXNA4):c.5220C>T (p.Ser1740=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3355943	NM_020911.2(PLXNA4):c.5205C>T (p.Arg1735=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 2636586	NM_020911.2(PLXNA4):c.5200G>A (p.Val1734Ile)	PLXNA4 (V1734I)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3049098	NM_020911.2(PLXNA4):c.5199C>T (p.His1733=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3054509	NM_020911.2(PLXNA4):c.5196G>A (p.Pro1732=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3353210	NM_020911.2(PLXNA4):c.5195C>T (p.Pro1732Leu)	PLXNA4 (P1732L)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3346645	NM_020911.2(PLXNA4):c.5180A>G (p.His1727Arg)	PLXNA4 (H1727R)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3346195	NM_020911.2(PLXNA4):c.5174A>G (p.Asp1725Gly)	PLXNA4 (D1725G)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3346193	NM_020911.2(PLXNA4):c.5105C>T (p.Thr1702Met)	PLXNA4 (T1702M)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3354874	NM_020911.2(PLXNA4):c.5070G>A (p.Lys1690=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 730571	NM_020911.2(PLXNA4):c.5056-5T>C	PLXNA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3353773	NM_020911.2(PLXNA4):c.5054A>G (p.Lys1685Arg)	PLXNA4 (K1685R)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3350811	NM_020911.2(PLXNA4):c.4991A>G (p.Lys1664Arg)	PLXNA4 (K1664R)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3031618	NM_020911.2(PLXNA4):c.4980C>T (p.His1660=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3027415	NM_020911.2(PLXNA4):c.4975G>A (p.Glu1659Lys)	PLXNA4 (E1659K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713226	NM_020911.2(PLXNA4):c.4974C>T (p.His1658=)	PLXNA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3354977	NM_020911.2(PLXNA4):c.4962A>G (p.Leu1654=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 2632070	NM_020911.2(PLXNA4):c.4927C>A (p.Pro1643Thr)	PLXNA4 (P1643T)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 2628924	NM_020911.2(PLXNA4):c.4903C>T (p.Arg1635Cys)	PLXNA4 (R1635C)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3354890	NM_020911.2(PLXNA4):c.4894G>A (p.Asp1632Asn)	PLXNA4 (D1632N)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3354578	NM_020911.2(PLXNA4):c.4884G>C (p.Thr1628=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3352231	NM_020911.2(PLXNA4):c.4884G>A (p.Thr1628=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GUncertain significance
Select item 3350447	NM_020911.2(PLXNA4):c.4876C>T (p.Arg1626Trp)	PLXNA4 (R1626W)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3349124	NM_020911.2(PLXNA4):c.4872_4874del (p.Met1624del)	PLXNA4 (M1624del)	Deletion (inframe_deletion)	PLXNA4-related disorder	GUncertain significance
Select item 2636534	NM_020911.2(PLXNA4):c.4870A>G (p.Met1624Val)	PLXNA4 (M1624V)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3356507	NM_020911.2(PLXNA4):c.4865-4G>A	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3355884	NM_020911.2(PLXNA4):c.4837G>T (p.Val1613Phe)	PLXNA4 (V1613F)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3358656	NM_020911.2(PLXNA4):c.4836C>T (p.Thr1612=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 2634396	NM_020911.2(PLXNA4):c.4819G>A (p.Ala1607Thr)	PLXNA4 (A1607T)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3357422	NM_020911.2(PLXNA4):c.4812C>G (p.Ala1604=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3357913	NM_020911.2(PLXNA4):c.4792G>C (p.Val1598Leu)	PLXNA4 (V1598L)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 2634533	NM_020911.2(PLXNA4):c.4780G>A (p.Val1594Met)	PLXNA4 (V1594M)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3032172	NM_020911.2(PLXNA4):c.4779C>T (p.Ser1593=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3032645	NM_020911.2(PLXNA4):c.4776T>C (p.Gly1592=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3352212	NM_020911.2(PLXNA4):c.4770A>G (p.Pro1590=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3055061	NM_020911.2(PLXNA4):c.4749A>G (p.Thr1583=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 3055160	NM_020911.2(PLXNA4):c.4739G>T (p.Arg1580Leu)	PLXNA4 (R1580L)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 2636670	NM_020911.2(PLXNA4):c.4739G>A (p.Arg1580Gln)	PLXNA4 (R1580Q)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3061699	NM_020911.2(PLXNA4):c.4737G>A (p.Lys1579=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 2634208	NM_020911.2(PLXNA4):c.4721T>C (p.Ile1574Thr)	PLXNA4 (I1574T)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3355487	NM_020911.2(PLXNA4):c.4716C>G (p.Thr1572=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related disorder	GLikely benign
Select item 2636098	NM_020911.2(PLXNA4):c.4676G>A (p.Ser1559Asn)	PLXNA4 (S1559N)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 2628652	NM_020911.2(PLXNA4):c.4667G>A (p.Arg1556Gln)	PLXNA4 (R1556Q)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance
Select item 3345198	NM_020911.2(PLXNA4):c.4661-7_4661-6dup	PLXNA4	Duplication (intron variant)	PLXNA4-related disorder	GLikely benign
Select item 3356449	NM_020911.2(PLXNA4):c.4660+5G>A	PLXNA4	Single nucleotide variant (intron variant)	PLXNA4-related disorder	GUncertain significance
Select item 2635065	NM_020911.2(PLXNA4):c.4633C>T (p.Arg1545Trp)	PLXNA4 (R1545W)	Single nucleotide variant (missense variant)	PLXNA4-related disorder	GUncertain significance

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