PALD1[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance
Select item 2547385	NM_014431.3(PALD1):c.32C>T (p.Thr11Met)	PALD1 (T11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768371	NM_014431.3(PALD1):c.186-6C>A	PALD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640552	NM_014431.3(PALD1):c.186-5C>G	PALD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2403411	NM_014431.3(PALD1):c.229A>G (p.Lys77Glu)	PALD1 (K77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594277	NM_014431.3(PALD1):c.242C>T (p.Thr81Met)	PALD1 (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208110	NM_014431.3(PALD1):c.251G>A (p.Arg84Gln)	PALD1 (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208111	NM_014431.3(PALD1):c.257C>T (p.Ser86Leu)	PALD1 (S86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468518	NM_014431.3(PALD1):c.308G>A (p.Arg103Gln)	PALD1 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311049	NM_014431.3(PALD1):c.331G>A (p.Val111Met)	PALD1 (V111M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208112	NM_014431.3(PALD1):c.436G>A (p.Val146Ile)	PALD1 (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321455	NM_014431.3(PALD1):c.523G>A (p.Glu175Lys)	PALD1 (E175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229214	NM_014431.3(PALD1):c.530T>G (p.Phe177Cys)	PALD1 (F177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455623	NM_014431.3(PALD1):c.657C>G (p.Ser219Arg)	PALD1 (S219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298210	NM_014431.3(PALD1):c.698G>C (p.Trp233Ser)	PALD1 (W233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208113	NM_014431.3(PALD1):c.706C>A (p.Pro236Thr)	PALD1 (P236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339898	NM_014431.3(PALD1):c.718G>T (p.Ala240Ser)	PALD1 (A240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208114	NM_014431.3(PALD1):c.719C>T (p.Ala240Val)	PALD1 (A240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603767	NM_014431.3(PALD1):c.727G>A (p.Gly243Ser)	PALD1 (G243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352956	NM_014431.3(PALD1):c.748A>T (p.Thr250Ser)	PALD1 (T250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594083	NM_014431.3(PALD1):c.860G>C (p.Ser287Thr)	PALD1 (S287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353300	NM_014431.3(PALD1):c.877C>T (p.Pro293Ser)	PALD1 (P293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718337	NM_014431.3(PALD1):c.895C>T (p.Arg299Cys)	PALD1 (R299C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3208115	NM_014431.3(PALD1):c.896G>A (p.Arg299His)	PALD1 (R299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208116	NM_014431.3(PALD1):c.946G>A (p.Val316Met)	PALD1 (V316M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319616	NM_014431.3(PALD1):c.964G>A (p.Gly322Ser)	PALD1 (G322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353015	NM_014431.3(PALD1):c.997C>T (p.Arg333Cys)	PALD1 (R333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282582	NM_014431.3(PALD1):c.1013C>T (p.Ser338Phe)	PALD1 (S338F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337255	NM_014431.3(PALD1):c.1019C>T (p.Pro340Leu)	PALD1 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640553	NM_014431.3(PALD1):c.1025C>T (p.Ala342Val)	PALD1 (A342V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3208093	NM_014431.3(PALD1):c.1034C>A (p.Thr345Lys)	PALD1 (T345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524858	NM_014431.3(PALD1):c.1068G>C (p.Gln356His)	PALD1 (Q356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208095	NM_014431.3(PALD1):c.1088G>T (p.Arg363Leu)	PALD1 (R363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208096	NM_014431.3(PALD1):c.1139C>A (p.Thr380Asn)	PALD1 (T380N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371647	NM_014431.3(PALD1):c.1211C>T (p.Pro404Leu)	PALD1 (P404L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483208	NM_014431.3(PALD1):c.1217G>A (p.Ser406Asn)	PALD1 (S406N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512209	NM_014431.3(PALD1):c.1234G>A (p.Gly412Ser)	PALD1 (G412S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277255	NM_014431.3(PALD1):c.1249G>A (p.Val417Ile)	PALD1 (V417I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208097	NM_014431.3(PALD1):c.1250T>G (p.Val417Gly)	PALD1 (V417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221652	NM_014431.3(PALD1):c.1328C>T (p.Pro443Leu)	PALD1 (P443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529459	NM_014431.3(PALD1):c.1354C>T (p.Arg452Cys)	PALD1 (R452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350481	NM_014431.3(PALD1):c.1355G>A (p.Arg452His)	PALD1 (R452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208098	NM_014431.3(PALD1):c.1367C>T (p.Ala456Val)	PALD1 (A456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601700	NM_014431.3(PALD1):c.1414C>T (p.Pro472Ser)	PALD1 (P472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280746	NM_014431.3(PALD1):c.1420G>A (p.Ala474Thr)	PALD1 (A474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208099	NM_014431.3(PALD1):c.1427G>C (p.Arg476Thr)	PALD1 (R476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789204	NM_014431.3(PALD1):c.1485C>T (p.Leu495=)	PALD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208100	NM_014431.3(PALD1):c.1504G>A (p.Asp502Asn)	PALD1 (D502N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371593	NM_014431.3(PALD1):c.1618C>T (p.Arg540Trp)	PALD1 (R540W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600592	NM_014431.3(PALD1):c.1642C>T (p.Arg548Trp)	PALD1 (R548W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208101	NM_014431.3(PALD1):c.1699C>T (p.Pro567Ser)	PALD1 (P567S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304015	NM_014431.3(PALD1):c.1702C>T (p.Pro568Ser)	PALD1 (P568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208102	NM_014431.3(PALD1):c.1735G>A (p.Ala579Thr)	PALD1 (A579T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396445	NM_014431.3(PALD1):c.1769C>T (p.Pro590Leu)	PALD1 (P590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208104	NM_014431.3(PALD1):c.1776G>T (p.Lys592Asn)	PALD1 (K592N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247074	NM_014431.3(PALD1):c.1781G>A (p.Gly594Asp)	PALD1 (G594D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406514	NM_014431.3(PALD1):c.1841G>A (p.Arg614His)	PALD1 (R614H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640554	NM_014431.3(PALD1):c.1937G>A (p.Arg646Gln)	PALD1 (R646Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640555	NM_014431.3(PALD1):c.2028C>T (p.Val676=)	PALD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309486	NM_014431.3(PALD1):c.2126T>C (p.Val709Ala)	PALD1 (V709A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215412	NM_014431.3(PALD1):c.2293C>T (p.Arg765Trp)	PALD1 (R765W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221981	NM_014431.3(PALD1):c.2308C>T (p.Arg770Trp)	PALD1 (R770W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208105	NM_014431.3(PALD1):c.2328G>C (p.Glu776Asp)	PALD1 (E776D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208106	NM_014431.3(PALD1):c.2353A>G (p.Asn785Asp)	PALD1 (N785D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208107	NM_014431.3(PALD1):c.2356G>A (p.Ala786Thr)	PALD1 (A786T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208108	NM_014431.3(PALD1):c.2426C>T (p.Ser809Leu)	PALD1 (S809L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403765	NM_014431.3(PALD1):c.2443G>A (p.Glu815Lys)	PALD1 (E815K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536602	NM_014431.3(PALD1):c.2455G>C (p.Glu819Gln)	PALD1 (E819Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515908	NM_014431.3(PALD1):c.2455G>A (p.Glu819Lys)	PALD1 (E819K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304016	NM_014431.3(PALD1):c.2457G>C (p.Glu819Asp)	PALD1 (E819D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490089	NM_014431.3(PALD1):c.2461G>A (p.Gly821Ser)	PALD1 (G821S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208109	NM_014431.3(PALD1):c.2491C>G (p.Gln831Glu)	PALD1 (Q831E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359575	NM_014431.3(PALD1):c.2509C>T (p.Arg837Cys)	PALD1 (R837C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304014	NM_014431.3(PALD1):c.2515C>T (p.Arg839Trp)	PALD1 (R839W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1022610	NC_000010.10:g.(?_72179670)_(72360658_?)dup	EIF4EBP2, NODAL +2 more	Duplication	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 90