10698[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 222961	NM_001143998.2(SEC14L1):c.100C>G (p.Pro34Ala)	SEC14L1 (P34A)	Single nucleotide variant (missense variant +1 more)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 2298195	NM_001143998.2(SEC14L1):c.142G>A (p.Glu48Lys)	SEC14L1 (E48K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730749	NM_001143998.2(SEC14L1):c.174C>G (p.Arg58=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328516	NM_001143998.2(SEC14L1):c.232G>A (p.Val78Ile)	SEC14L1 (V44I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207579	NM_001143998.2(SEC14L1):c.311A>G (p.Asn104Ser)	SEC14L1 (N104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216620	NM_001143998.2(SEC14L1):c.322A>G (p.Ile108Val)	SEC14L1 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159113	NM_001143998.2(SEC14L1):c.514G>C (p.Glu172Gln)	SEC14L1 (E138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213343	NM_001143998.2(SEC14L1):c.520G>A (p.Gly174Ser)	SEC14L1 (G174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355316	NM_001143998.2(SEC14L1):c.619G>A (p.Val207Ile)	SEC14L1 (V207I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271260	NM_001143998.2(SEC14L1):c.637C>T (p.Leu213Phe)	SEC14L1 (L213F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159114	NM_001143998.2(SEC14L1):c.662C>T (p.Ala221Val)	SEC14L1 (A221V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781390	NM_001143998.2(SEC14L1):c.738A>G (p.Arg246=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222344	NM_001143998.2(SEC14L1):c.908C>T (p.Thr303Met)	SEC14L1 (T303M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259308	NM_001143998.2(SEC14L1):c.1007A>G (p.Lys336Arg)	SEC14L1 (K302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732021	NM_001143998.2(SEC14L1):c.1009+6G>A	SEC14L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778750	NM_001143998.2(SEC14L1):c.1026C>T (p.Tyr342=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778751	NM_001143998.2(SEC14L1):c.1077G>A (p.Gly359=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292025	NM_001143998.2(SEC14L1):c.1084G>C (p.Ala362Pro)	SEC14L1 (A362P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159108	NM_001143998.2(SEC14L1):c.1130G>A (p.Arg377Gln)	SEC14L1 (R343Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159109	NM_001143998.2(SEC14L1):c.1135G>A (p.Glu379Lys)	SEC14L1 (E379K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522934	NM_001143998.2(SEC14L1):c.1147A>G (p.Lys383Glu)	SEC14L1 (K383E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268486	NM_001143998.2(SEC14L1):c.1255G>C (p.Glu419Gln)	SEC14L1 (E385Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764140	NM_001143998.2(SEC14L1):c.1314C>T (p.Pro438=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764141	NM_001143998.2(SEC14L1):c.1359T>C (p.Asp453=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323772	NM_001143998.2(SEC14L1):c.1486C>A (p.Pro496Thr)	SEC14L1 (P462T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159110	NM_001143998.2(SEC14L1):c.1561A>T (p.Thr521Ser)	SEC14L1 (T521S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385146	NM_001143998.2(SEC14L1):c.1585A>G (p.Ser529Gly)	SEC14L1 (S495G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788371	NM_001143998.2(SEC14L1):c.1600G>T (p.Ala534Ser)	SEC14L1 (A500S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2648326	NM_001143998.2(SEC14L1):c.1631A>T (p.Asp544Val)	SEC14L1 (D510V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334424	NM_001143998.2(SEC14L1):c.1678A>G (p.Ile560Val)	SEC14L1 (I526V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356903	NM_001143998.2(SEC14L1):c.1709C>T (p.Ser570Leu)	SEC14L1 (S536L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159111	NM_001143998.2(SEC14L1):c.1760C>T (p.Pro587Leu)	LOC130061753, SEC14L1 (P553L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212353	NM_001143998.2(SEC14L1):c.1807C>T (p.Arg603Cys)	LOC130061753, SEC14L1 (R603C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266152	NM_001143998.2(SEC14L1):c.1811A>G (p.Asp604Gly)	LOC130061753, SEC14L1 (D570G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383342	NM_001143998.2(SEC14L1):c.1829C>T (p.Ser610Leu)	LOC130061753, SEC14L1 (S610L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159112	NM_001143998.2(SEC14L1):c.1858G>A (p.Val620Met)	SEC14L1 (V620M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732022	NM_001143998.2(SEC14L1):c.1948C>T (p.Pro650Ser)	SEC14L1 (P650S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2259837	NM_001143998.2(SEC14L1):c.1954G>A (p.Val652Met)	SEC14L1 (V652M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549900	NM_001143998.2(SEC14L1):c.1957G>T (p.Asp653Tyr)	SEC14L1 (D619Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743248	NM_001143998.2(SEC14L1):c.1959C>T (p.Asp653=)	SEC14L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487549	NM_001143998.2(SEC14L1):c.1963G>C (p.Val655Leu)	SEC14L1 (V621L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547612	NM_001143998.2(SEC14L1):c.2118G>T (p.Gln706His)	SEC14L1 (Q706H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063497	GRCh37/hg19 17q25.2(chr17:75077219-75228929)x1	SEC14L1	Copy number loss	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CDK3, PRCD +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688329	GRCh37/hg19 17q25.2(chr17:75050166-75094971)x4	SEC14L1	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442564	GRCh37/hg19 17q25.2-25.3(chr17:75104943-75602123)x3	SEC14L1, SEPTIN9	Copy number gain	See cases	GUncertain significance
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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 58