9842[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1254078	NM_014798.3(PLEKHM1):c.*270C>T	PLEKHM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1285181	NM_014798.3(PLEKHM1):c.3168C>T (p.Ala1056=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 452522	NM_014798.3(PLEKHM1):c.3159C>A (p.Asn1053Lys)	PLEKHM1 (N1053K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2266204	NM_014798.3(PLEKHM1):c.3155A>G (p.Gln1052Arg)	PLEKHM1 (Q1052R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395950	NM_014798.3(PLEKHM1):c.3137G>A (p.Arg1046Gln)	PLEKHM1 (R1046Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1282226	NM_014798.3(PLEKHM1):c.3059+105T>G	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251543	NM_014798.3(PLEKHM1):c.3059+104C>T	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257281	NM_014798.3(PLEKHM1):c.3055G>T (p.Val1019Phe)	PLEKHM1 (V1019F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 560305	NM_014798.3(PLEKHM1):c.3053_3054del (p.Thr1018fs)	PLEKHM1 (T1018fs)	Microsatellite (frameshift variant +1 more)	Osteopetrosis, autosomal dominant 3	GPathogenic
Select item 3307687	NM_014798.3(PLEKHM1):c.3040G>A (p.Glu1014Lys)	PLEKHM1 (E1014K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371860	NM_014798.3(PLEKHM1):c.3022G>A (p.Asp1008Asn)	PLEKHM1 (D1008N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1291719	NM_014798.3(PLEKHM1):c.2913G>A (p.Gly971=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1258903	NM_014798.3(PLEKHM1):c.2902-54C>T	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229388	NM_014798.3(PLEKHM1):c.2902-252A>G	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253364	NM_014798.3(PLEKHM1):c.2838-140G>A	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259474	NM_014798.3(PLEKHM1):c.2837+57_2837+60del	PLEKHM1	Microsatellite (intron variant)	not provided	GBenign
Select item 3215136	NM_014798.3(PLEKHM1):c.2815G>A (p.Ala939Thr)	PLEKHM1 (A939T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307684	NM_014798.3(PLEKHM1):c.2801T>C (p.Leu934Pro)	PLEKHM1 (L934P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529282	NM_014798.3(PLEKHM1):c.2677A>G (p.Ile893Val)	PLEKHM1 (I893V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647847	NM_014798.3(PLEKHM1):c.2642C>T (p.Pro881Leu)	PLEKHM1 (P881L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2613374	NM_014798.3(PLEKHM1):c.2642C>A (p.Pro881Gln)	PLEKHM1 (P881Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307688	NM_014798.3(PLEKHM1):c.2639G>T (p.Arg880Leu)	PLEKHM1 (R880L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215135	NM_014798.3(PLEKHM1):c.2639G>A (p.Arg880His)	PLEKHM1 (R880H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215134	NM_014798.3(PLEKHM1):c.2512A>G (p.Ile838Val)	PLEKHM1 (I838V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1284230	NM_014798.3(PLEKHM1):c.2497+171C>T	PLEKHM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3307686	NM_014798.3(PLEKHM1):c.2474A>G (p.Asp825Gly)	PLEKHM1 (D825G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215133	NM_014798.3(PLEKHM1):c.2470C>T (p.Leu824Phe)	PLEKHM1 (L824F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467062	NM_014798.3(PLEKHM1):c.2380G>T (p.Asp794Tyr)	PLEKHM1 (D794Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307685	NM_014798.3(PLEKHM1):c.2355G>C (p.Glu785Asp)	PLEKHM1 (E785D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347228	NM_014798.3(PLEKHM1):c.2347G>A (p.Ala783Thr)	PLEKHM1 (A783T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215132	NM_014798.3(PLEKHM1):c.2287G>A (p.Glu763Lys)	PLEKHM1 (E763K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215131	NM_014798.3(PLEKHM1):c.2268G>C (p.Lys756Asn)	PLEKHM1 (K756N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215130	NM_014798.3(PLEKHM1):c.2249C>T (p.Thr750Met)	PLEKHM1 (T750M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272019	NM_014798.3(PLEKHM1):c.2212A>G (p.Thr738Ala)	PLEKHM1 (T738A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307683	NM_014798.3(PLEKHM1):c.2195G>A (p.Arg732Gln)	PLEKHM1 (R732Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484341	NM_014798.3(PLEKHM1):c.2173A>G (p.Ser725Gly)	PLEKHM1 (S725G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 560304	NM_014798.3(PLEKHM1):c.2140C>T (p.Arg714Cys)	PLEKHM1 (R714C)	Single nucleotide variant (missense variant +1 more)	Osteopetrosis, autosomal dominant 3	GPathogenic
Select item 3215129	NM_014798.3(PLEKHM1):c.2102A>G (p.Tyr701Cys)	PLEKHM1 (Y701C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285958	NM_014798.3(PLEKHM1):c.2095A>G (p.Met699Val)	PLEKHM1 (M699V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2532944	NM_014798.3(PLEKHM1):c.1958G>T (p.Gly653Val)	PLEKHM1 (G653V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215128	NM_014798.3(PLEKHM1):c.1957G>C (p.Gly653Arg)	PLEKHM1 (G653R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468868	NM_014798.3(PLEKHM1):c.1883G>A (p.Arg628Gln)	PLEKHM1 (R628Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511926	NM_014798.3(PLEKHM1):c.1882C>T (p.Arg628Trp)	PLEKHM1 (R628W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215127	NM_014798.3(PLEKHM1):c.1831G>T (p.Asp611Tyr)	PLEKHM1 (D611Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215126	NM_014798.3(PLEKHM1):c.1765C>G (p.His589Asp)	PLEKHM1 (H589D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241563	NM_014798.3(PLEKHM1):c.1765C>T (p.His589Tyr)	PLEKHM1 (H589Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349925	NM_014798.3(PLEKHM1):c.1742G>A (p.Arg581His)	PLEKHM1 (R581H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493233	NM_014798.3(PLEKHM1):c.1727A>G (p.Asn576Ser)	PLEKHM1 (N576S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2269708	NM_014798.3(PLEKHM1):c.1687C>T (p.Arg563Cys)	PLEKHM1 (R563C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215125	NM_014798.3(PLEKHM1):c.1684T>A (p.Phe562Ile)	PLEKHM1 (F562I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521826	NM_014798.3(PLEKHM1):c.1639A>G (p.Met547Val)	PLEKHM1 (M547V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398169	NM_014798.3(PLEKHM1):c.1636G>A (p.Ala546Thr)	PLEKHM1 (A546T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247858	NM_014798.3(PLEKHM1):c.1580-288G>A	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2216733	NM_014798.3(PLEKHM1):c.1562T>C (p.Val521Ala)	PLEKHM1 (V521A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520186	NM_014798.3(PLEKHM1):c.1475G>A (p.Gly492Glu)	PLEKHM1 (G492E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3215124	NM_014798.3(PLEKHM1):c.1466G>C (p.Cys489Ser)	PLEKHM1 (C489S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404449	NM_014798.3(PLEKHM1):c.1459A>G (p.Lys487Glu)	PLEKHM1 (K487E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233930	NM_014798.3(PLEKHM1):c.1373G>A (p.Ser458Asn)	PLEKHM1 (S458N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1174843	NM_014798.3(PLEKHM1):c.1348C>A (p.Pro450Thr)	PLEKHM1 (P450T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive osteopetrosis 6 +2 more	GUncertain significance
Select item 2490407	NM_014798.3(PLEKHM1):c.1327T>G (p.Ser443Ala)	PLEKHM1 (S443A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1281829	NM_014798.3(PLEKHM1):c.1309-147G>A	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255362	NM_014798.3(PLEKHM1):c.1308+275G>A	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2609827	NM_014798.3(PLEKHM1):c.1285G>A (p.Val429Ile)	PLEKHM1 (V429I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491969	NM_014798.3(PLEKHM1):c.1234G>A (p.Gly412Arg)	PLEKHM1 (G412R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470008	NM_014798.3(PLEKHM1):c.1225G>A (p.Val409Met)	PLEKHM1 (V409M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407425	NM_014798.3(PLEKHM1):c.1166C>A (p.Pro389His)	PLEKHM1 (P389H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407423	NM_014798.3(PLEKHM1):c.1154A>T (p.Asp385Val)	PLEKHM1 (D385V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312309	NM_014798.3(PLEKHM1):c.1145G>A (p.Ser382Asn)	PLEKHM1 (S382N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332501	NM_014798.3(PLEKHM1):c.1061C>T (p.Ala354Val)	PLEKHM1 (A354V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1290100	NM_014798.3(PLEKHM1):c.990A>G (p.Thr330=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3215141	NM_014798.3(PLEKHM1):c.973G>A (p.Gly325Arg)	PLEKHM1 (G325R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217468	NM_014798.3(PLEKHM1):c.964C>G (p.Pro322Ala)	PLEKHM1 (P322A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1182339	NM_014798.3(PLEKHM1):c.924-98C>A	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3215140	NM_014798.3(PLEKHM1):c.921A>T (p.Gln307His)	PLEKHM1 (Q307H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377727	NM_014798.3(PLEKHM1):c.910C>T (p.Arg304Trp)	PLEKHM1 (R304W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 373763	NM_014798.3(PLEKHM1):c.884G>A (p.Gly295Asp)	PLEKHM1 (G295D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244874	NM_014798.3(PLEKHM1):c.852C>T (p.Cys284=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3215139	NM_014798.3(PLEKHM1):c.829G>A (p.Gly277Ser)	PLEKHM1 (G277S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464751	NM_014798.3(PLEKHM1):c.765C>A (p.Asp255Glu)	PLEKHM1 (D255E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347018	NM_014798.3(PLEKHM1):c.754C>G (p.Leu252Val)	PLEKHM1 (L252V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401397	NM_014798.3(PLEKHM1):c.710C>T (p.Ser237Leu)	PLEKHM1 (S237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363431	NM_014798.3(PLEKHM1):c.697G>A (p.Glu233Lys)	PLEKHM1 (E233K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1251439	NM_014798.3(PLEKHM1):c.672C>G (p.Ser224=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2647848	NM_014798.3(PLEKHM1):c.583C>A (p.Leu195Met)	PLEKHM1 (L195M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1289070	NM_014798.3(PLEKHM1):c.577T>C (p.Leu193=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2205024	NM_014798.3(PLEKHM1):c.539A>T (p.Tyr180Phe)	PLEKHM1 (Y180F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495269	NM_014798.3(PLEKHM1):c.529G>A (p.Glu177Lys)	PLEKHM1 (E177K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480425	NM_014798.3(PLEKHM1):c.484G>A (p.Glu162Lys)	PLEKHM1 (E162K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1242228	NM_014798.3(PLEKHM1):c.468G>A (p.Arg156=)	PLEKHM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2345886	NM_014798.3(PLEKHM1):c.431G>A (p.Arg144His)	PLEKHM1 (R144H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215138	NM_014798.3(PLEKHM1):c.395A>C (p.Glu132Ala)	PLEKHM1 (E132A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546386	NM_014798.3(PLEKHM1):c.382G>A (p.Asp128Asn)	PLEKHM1 (D128N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283655	NM_014798.3(PLEKHM1):c.367C>T (p.Arg123Trp)	PLEKHM1 (R123W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1235971	NM_014798.3(PLEKHM1):c.297-58A>G	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229539	NM_014798.3(PLEKHM1):c.296+13T>C	PLEKHM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 922	NM_014798.3(PLEKHM1):c.296+1G>A	PLEKHM1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 6	GPathogenic
Select item 3307681	NM_014798.3(PLEKHM1):c.283G>A (p.Ala95Thr)	PLEKHM1 (A95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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