ClinVar for Gene (Select 5338) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	SPEM1, SPEM2 +209 more	Duplication	not provided	GUncertain significance
Select item 3214646	NM_002663.5(PLD2):c.821C>T (p.Thr274Met)	PLD2 (T274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214645	NM_002663.5(PLD2):c.71C>T (p.Ser24Phe)	PLD2 (S24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214644	NM_002663.5(PLD2):c.422A>G (p.Asn141Ser)	PLD2 (N141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214643	NM_002663.5(PLD2):c.418G>T (p.Gly140Cys)	PLD2 (G140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214641	NM_002663.5(PLD2):c.2657C>T (p.Thr886Met)	PLD2 (T875M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214640	NM_002663.5(PLD2):c.2350G>T (p.Asp784Tyr)	PLD2 (D784Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214639	NM_002663.5(PLD2):c.1684C>T (p.Arg562Cys)	PLD2 (R562C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214638	NM_002663.5(PLD2):c.1639G>A (p.Val547Ile)	PLD2 (V547I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214637	NM_002663.5(PLD2):c.1489C>T (p.Pro497Ser)	PLD2 (P497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214636	NM_002663.5(PLD2):c.1441T>A (p.Ser481Thr)	PLD2 (S481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214635	NM_002663.5(PLD2):c.139T>A (p.Tyr47Asn)	LOC126862470, PLD2 (Y47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214634	NM_002663.5(PLD2):c.1195A>C (p.Ile399Leu)	PLD2 (I399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2689770	NM_002663.5(PLD2):c.2026_2027insAA (p.Arg676fs)	PLD2 (R676fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2622065	NM_002663.5(PLD2):c.2429G>C (p.Arg810Thr)	PLD2 (S810T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621610	NM_002663.5(PLD2):c.562T>C (p.Phe188Leu)	PLD2 (F188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2559598	NM_002663.5(PLD2):c.605G>T (p.Arg202Leu)	PLD2 (R202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558319	NM_002663.5(PLD2):c.1340T>C (p.Val447Ala)	PLD2 (V447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555180	NM_002663.5(PLD2):c.1448C>T (p.Ala483Val)	PLD2 (A483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548997	NM_002663.5(PLD2):c.2663G>C (p.Ser888Thr)	PLD2 (S877T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545050	NM_002663.5(PLD2):c.23T>C (p.Leu8Pro)	PLD2 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542893	NM_002663.5(PLD2):c.850A>G (p.Thr284Ala)	PLD2 (T284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532071	NM_002663.5(PLD2):c.2330G>A (p.Arg777Gln)	PLD2 (R777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523213	NM_002663.5(PLD2):c.445C>T (p.Arg149Trp)	PLD2 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516939	NM_002663.5(PLD2):c.1391G>A (p.Arg464His)	PLD2 (R464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494073	NM_002663.5(PLD2):c.1507C>G (p.Gln503Glu)	PLD2 (Q503E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489655	NM_002663.5(PLD2):c.2762G>A (p.Gly921Asp)	PLD2 (G910D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463362	NM_002663.5(PLD2):c.2215C>T (p.Arg739Cys)	PLD2 (R739C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401778	NM_002663.5(PLD2):c.251G>A (p.Cys84Tyr)	LOC126862470, PLD2 (C84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401049	NM_002663.5(PLD2):c.2618G>A (p.Arg873Gln)	PLD2 (R862Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400043	NM_002663.5(PLD2):c.424A>G (p.Arg142Gly)	PLD2 (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399475	NM_002663.5(PLD2):c.677G>A (p.Arg226Gln)	PLD2 (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395538	NM_002663.5(PLD2):c.898C>T (p.Arg300Trp)	PLD2 (R300W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389102	NM_002663.5(PLD2):c.1886C>T (p.Thr629Ile)	PLD2 (T629I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388766	NM_002663.5(PLD2):c.1810G>A (p.Val604Ile)	PLD2 (V604I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388765	NM_002663.5(PLD2):c.1108G>A (p.Val370Ile)	PLD2 (V370I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367552	NM_002663.5(PLD2):c.2365G>A (p.Val789Met)	PLD2 (V789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359720	NM_002663.5(PLD2):c.1763C>T (p.Thr588Met)	PLD2 (T588M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352317	NM_002663.5(PLD2):c.2263A>G (p.Ile755Val)	PLD2 (I755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346944	NM_002663.5(PLD2):c.2782C>A (p.Pro928Thr)	PLD2 (P917T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330395	NM_002663.5(PLD2):c.2396C>G (p.Ser799Cys)	PLD2 (S799C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326544	NM_002663.5(PLD2):c.21C>G (p.Ser7Arg)	PLD2 (S7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321010	NM_002663.5(PLD2):c.1793G>A (p.Gly598Glu)	PLD2 (G598E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310454	NM_002663.5(PLD2):c.2641G>A (p.Val881Met)	PLD2 (V881M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308703	NM_002663.5(PLD2):c.2193C>G (p.Asp731Glu)	PLD2 (D731E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300523	NM_002663.5(PLD2):c.2134C>T (p.Arg712Cys)	PLD2 (R712C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299502	NM_002663.5(PLD2):c.1709A>G (p.Lys570Arg)	PLD2 (K570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298632	NM_002663.5(PLD2):c.2066G>A (p.Gly689Asp)	PLD2 (G689D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298187	NM_002663.5(PLD2):c.2348G>A (p.Arg783Gln)	PLD2 (R783Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285587	NM_002663.5(PLD2):c.49T>G (p.Ser17Ala)	PLD2 (S17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281143	NM_002663.5(PLD2):c.1195A>G (p.Ile399Val)	PLD2 (I399V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281094	NM_002663.5(PLD2):c.1466C>G (p.Pro489Arg)	PLD2 (P489R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280124	NM_002663.5(PLD2):c.538C>T (p.Arg180Cys)	PLD2 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273769	NM_002663.5(PLD2):c.2542G>C (p.Asp848His)	PLD2 (D837H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265567	NM_002663.5(PLD2):c.1487C>T (p.Thr496Ile)	PLD2 (T496I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264632	NM_002663.5(PLD2):c.2249C>T (p.Ser750Leu)	PLD2 (S750L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255824	NM_002663.5(PLD2):c.988C>T (p.Arg330Trp)	PLD2 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241072	NM_002663.5(PLD2):c.847G>A (p.Asp283Asn)	PLD2 (D283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237289	NM_002663.5(PLD2):c.2189G>A (p.Arg730Gln)	PLD2 (R730Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235178	NM_002663.5(PLD2):c.1789C>A (p.Pro597Thr)	PLD2 (P597T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231259	NM_002663.5(PLD2):c.268C>T (p.Arg90Cys)	LOC126862470, PLD2 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223125	NM_002663.5(PLD2):c.2027G>T (p.Arg676Leu)	PLD2 (R676L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215362	NM_002663.5(PLD2):c.2669C>G (p.Pro890Arg)	PLD2 (P879R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211808	NM_002663.5(PLD2):c.934G>T (p.Gly312Cys)	PLD2 (G312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 780392	NM_002663.5(PLD2):c.832C>T (p.His278Tyr)	PLD2 (H278Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777099	NM_002663.5(PLD2):c.2580C>T (p.Ile860=)	PLD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739282	NM_002663.5(PLD2):c.1705A>G (p.Thr569Ala)	PLD2 (T569A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 732827	NM_002663.5(PLD2):c.1008G>A (p.Arg336=)	PLD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724788	NM_002663.5(PLD2):c.1638C>T (p.Val546=)	PLD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722410	NM_002663.5(PLD2):c.1658G>A (p.Arg553Gln)	PLD2 (R553Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721862	NM_002663.5(PLD2):c.2010-9C>T	PLD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721643	NM_002663.5(PLD2):c.1702-6C>T	PLD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713669	NM_002663.5(PLD2):c.989G>A (p.Arg330Gln)	PLD2 (R330Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711166	NM_002663.5(PLD2):c.1468C>T (p.Arg490Cys)	PLD2 (R490C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 587557	NM_002663.5(PLD2):c.2447G>A (p.Arg816Gln)	PLD2 (R816Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441788	GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1	C17orf107, CHRNE +14 more	Copy number loss	See cases	GUncertain significance
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic

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