NAALADL1[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2306122	NM_005468.3(NAALADL1):c.2075C>T (p.Thr692Ile)	NAALADL1 (T692I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562259	NM_005468.3(NAALADL1):c.2068G>A (p.Val690Ile)	NAALADL1 (V690I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537457	NM_005468.3(NAALADL1):c.2029T>C (p.Tyr677His)	NAALADL1 (Y677H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357732	NM_005468.3(NAALADL1):c.2026C>T (p.Arg676Cys)	NAALADL1 (R676C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512010	NM_005468.3(NAALADL1):c.2023G>A (p.Glu675Lys)	NAALADL1 (E675K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552374	NM_005468.3(NAALADL1):c.1990C>G (p.Arg664Gly)	NAALADL1 (R664G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215239	NM_005468.3(NAALADL1):c.1957C>T (p.Arg653Trp)	NAALADL1 (R653W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410873	NM_005468.3(NAALADL1):c.1913G>A (p.Arg638His)	NAALADL1 (R638H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329389	NM_005468.3(NAALADL1):c.1769G>C (p.Ser590Thr)	NAALADL1 (S590T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385123	NM_005468.3(NAALADL1):c.1708C>T (p.Arg570Trp)	NAALADL1 (R570W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172112	NM_005468.3(NAALADL1):c.1703T>C (p.Val568Ala)	NAALADL1 (V568A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354196	NM_005468.3(NAALADL1):c.1663G>T (p.Asp555Tyr)	NAALADL1 (D555Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310087	NM_005468.3(NAALADL1):c.1613C>T (p.Ala538Val)	NAALADL1 (A538V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172101	NM_005468.3(NAALADL1):c.1575G>C (p.Met525Ile)	NAALADL1 (M525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172099	NM_005468.3(NAALADL1):c.1574T>C (p.Met525Thr)	NAALADL1 (M525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493870	NM_005468.3(NAALADL1):c.1523G>T (p.Gly508Val)	NAALADL1 (G508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231006	NM_005468.3(NAALADL1):c.1489G>A (p.Val497Met)	NAALADL1 (V497M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490960	NM_005468.3(NAALADL1):c.1439A>G (p.Asp480Gly)	NAALADL1 (D480G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477597	NM_005468.3(NAALADL1):c.1424C>T (p.Ser475Leu)	NAALADL1 (S475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172090	NM_005468.3(NAALADL1):c.1370A>C (p.Gln457Pro)	NAALADL1 (Q457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309318	NM_005468.3(NAALADL1):c.1324A>T (p.Ile442Phe)	NAALADL1 (I442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368252	NM_005468.3(NAALADL1):c.1322A>G (p.Tyr441Cys)	NAALADL1 (Y441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223518	NM_005468.3(NAALADL1):c.1262T>C (p.Ile421Thr)	NAALADL1 (I421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236549	NM_005468.3(NAALADL1):c.1150G>A (p.Ala384Thr)	NAALADL1 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332000	NM_005468.3(NAALADL1):c.1135C>A (p.Pro379Thr)	NAALADL1 (P379T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314513	NM_005468.3(NAALADL1):c.1051G>A (p.Gly351Ser)	NAALADL1 (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205194	NM_005468.3(NAALADL1):c.1018C>T (p.Arg340Cys)	NAALADL1 (R340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520912	NM_005468.3(NAALADL1):c.981C>G (p.Phe327Leu)	NAALADL1 (F327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553610	NM_005468.3(NAALADL1):c.965G>A (p.Arg322Gln)	NAALADL1 (R322Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172191	NM_005468.3(NAALADL1):c.919T>C (p.Trp307Arg)	NAALADL1 (W307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614385	NM_005468.3(NAALADL1):c.821A>G (p.Asn274Ser)	NAALADL1 (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212776	NM_005468.3(NAALADL1):c.813C>A (p.Asp271Glu)	NAALADL1 (D271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172173	NM_005468.3(NAALADL1):c.805C>T (p.Arg269Cys)	NAALADL1 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519851	NM_005468.3(NAALADL1):c.722C>T (p.Pro241Leu)	NAALADL1 (P241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172163	NM_005468.3(NAALADL1):c.719C>A (p.Pro240His)	NAALADL1 (P240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172159	NM_005468.3(NAALADL1):c.688G>A (p.Asp230Asn)	NAALADL1 (D230N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317400	NM_005468.3(NAALADL1):c.586G>A (p.Val196Ile)	NAALADL1 (V196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064053	NM_005468.3(NAALADL1):c.572C>G (p.Thr191Ser)	NAALADL1 (T191S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3172152	NM_005468.3(NAALADL1):c.508G>A (p.Ala170Thr)	NAALADL1 (A170T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209101	NM_005468.3(NAALADL1):c.482G>A (p.Gly161Asp)	NAALADL1 (G161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350780	NM_005468.3(NAALADL1):c.425G>C (p.Gly142Ala)	NAALADL1 (G142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172144	NM_005468.3(NAALADL1):c.409G>C (p.Val137Leu)	NAALADL1 (V137L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508348	NM_005468.3(NAALADL1):c.409G>A (p.Val137Met)	NAALADL1 (V137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250679	NM_005468.3(NAALADL1):c.406A>G (p.Asn136Asp)	NAALADL1 (N136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508732	NM_005468.3(NAALADL1):c.394C>T (p.Arg132Trp)	NAALADL1 (R132W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607109	NM_005468.3(NAALADL1):c.329G>A (p.Ser110Asn)	NAALADL1 (S110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517249	NM_005468.3(NAALADL1):c.307G>A (p.Glu103Lys)	NAALADL1 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335364	NM_005468.3(NAALADL1):c.292G>A (p.Glu98Lys)	NAALADL1 (E98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172130	NM_005468.3(NAALADL1):c.281T>C (p.Leu94Pro)	NAALADL1 (L94P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513247	NM_005468.3(NAALADL1):c.256C>T (p.Arg86Cys)	NAALADL1 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392661	NM_005468.3(NAALADL1):c.172C>T (p.Arg58Trp)	NAALADL1 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291790	NM_005468.3(NAALADL1):c.122A>C (p.Asp41Ala)	NAALADL1 (D41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276324	NM_005468.3(NAALADL1):c.117C>A (p.Asp39Glu)	NAALADL1 (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291789	NM_005468.3(NAALADL1):c.113A>T (p.Gln38Leu)	NAALADL1 (Q38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291788	NM_005468.3(NAALADL1):c.104T>A (p.Leu35Gln)	NAALADL1 (L35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359875	NM_005468.3(NAALADL1):c.85C>A (p.Pro29Thr)	NAALADL1 (P29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172073	NM_005468.3(NAALADL1):c.11C>T (p.Thr4Met)	NAALADL1 (T4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	ARL2, ATG2A +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 69