PKDREJ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 35217	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3213740	NM_006071.2(PKDREJ):c.6683C>G (p.Pro2228Arg)	PKDREJ (P2228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477210	NM_006071.2(PKDREJ):c.6677G>C (p.Gly2226Ala)	PKDREJ (G2226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306969	NM_006071.2(PKDREJ):c.6662T>C (p.Ile2221Thr)	PKDREJ (I2221T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213739	NM_006071.2(PKDREJ):c.6649C>G (p.Pro2217Ala)	PKDREJ (P2217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213738	NM_006071.2(PKDREJ):c.6608T>C (p.Met2203Thr)	PKDREJ (M2203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408166	NM_006071.2(PKDREJ):c.6428A>G (p.Asn2143Ser)	PKDREJ (N2143S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213737	NM_006071.2(PKDREJ):c.6395G>A (p.Cys2132Tyr)	PKDREJ (C2132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213736	NM_006071.2(PKDREJ):c.6328G>T (p.Val2110Leu)	PKDREJ (V2110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243670	NM_006071.2(PKDREJ):c.6312G>C (p.Met2104Ile)	PKDREJ (M2104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410836	NM_006071.2(PKDREJ):c.6304G>A (p.Val2102Ile)	PKDREJ (V2102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275177	NM_006071.2(PKDREJ):c.6283G>A (p.Val2095Ile)	PKDREJ (V2095I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653298	NM_006071.2(PKDREJ):c.6258C>T (p.Leu2086=)	PKDREJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306974	NM_006071.2(PKDREJ):c.6206C>T (p.Ser2069Phe)	PKDREJ (S2069F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409540	NM_006071.2(PKDREJ):c.6199A>G (p.Arg2067Gly)	PKDREJ (R2067G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314153	NM_006071.2(PKDREJ):c.6113T>C (p.Ile2038Thr)	PKDREJ (I2038T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358665	NM_006071.2(PKDREJ):c.6095C>T (p.Ser2032Leu)	PKDREJ (S2032L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385077	NM_006071.2(PKDREJ):c.6014T>C (p.Leu2005Ser)	PKDREJ (L2005S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291959	NM_006071.2(PKDREJ):c.5954T>A (p.Ile1985Asn)	PKDREJ (I1985N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303658	NM_006071.2(PKDREJ):c.5944G>A (p.Glu1982Lys)	PKDREJ (E1982K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213735	NM_006071.2(PKDREJ):c.5901G>C (p.Leu1967Phe)	PKDREJ (L1967F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213734	NM_006071.2(PKDREJ):c.5897A>G (p.Tyr1966Cys)	PKDREJ (Y1966C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309565	NM_006071.2(PKDREJ):c.5881G>T (p.Ala1961Ser)	PKDREJ (A1961S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324681	NM_006071.2(PKDREJ):c.5822G>A (p.Gly1941Glu)	PKDREJ (G1941E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591045	NM_006071.2(PKDREJ):c.5795C>T (p.Ser1932Leu)	PKDREJ (S1932L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278429	NM_006071.2(PKDREJ):c.5727G>C (p.Glu1909Asp)	PKDREJ (E1909D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653299	NM_006071.2(PKDREJ):c.5688G>A (p.Leu1896=)	PKDREJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306979	NM_006071.2(PKDREJ):c.5687T>C (p.Leu1896Pro)	PKDREJ (L1896P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208466	NM_006071.2(PKDREJ):c.5671C>T (p.Arg1891Trp)	PKDREJ (R1891W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246725	NM_006071.2(PKDREJ):c.5624C>T (p.Thr1875Ile)	PKDREJ (T1875I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385655	NM_006071.2(PKDREJ):c.5588C>T (p.Thr1863Met)	PKDREJ (T1863M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306975	NM_006071.2(PKDREJ):c.5516G>A (p.Gly1839Asp)	PKDREJ (G1839D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213733	NM_006071.2(PKDREJ):c.5435T>C (p.Phe1812Ser)	PKDREJ (F1812S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298974	NM_006071.2(PKDREJ):c.5426C>A (p.Ala1809Asp)	PKDREJ (A1809D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213732	NM_006071.2(PKDREJ):c.5418T>G (p.Cys1806Trp)	PKDREJ (C1806W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213731	NM_006071.2(PKDREJ):c.5404A>C (p.Ser1802Arg)	PKDREJ (S1802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213730	NM_006071.2(PKDREJ):c.5372T>G (p.Leu1791Arg)	PKDREJ (L1791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589345	NM_006071.2(PKDREJ):c.5243C>G (p.Ser1748Cys)	PKDREJ (S1748C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395637	NM_006071.2(PKDREJ):c.5195G>A (p.Arg1732His)	PKDREJ (R1732H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221159	NM_006071.2(PKDREJ):c.5129T>A (p.Phe1710Tyr)	PKDREJ (F1710Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523142	NM_006071.2(PKDREJ):c.5122C>G (p.Leu1708Val)	PKDREJ (L1708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284196	NM_006071.2(PKDREJ):c.5048C>T (p.Thr1683Met)	PKDREJ (T1683M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213729	NM_006071.2(PKDREJ):c.4913C>T (p.Thr1638Met)	PKDREJ (T1638M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258320	NM_006071.2(PKDREJ):c.4907T>C (p.Phe1636Ser)	PKDREJ (F1636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213728	NM_006071.2(PKDREJ):c.4804T>G (p.Tyr1602Asp)	PKDREJ (Y1602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306973	NM_006071.2(PKDREJ):c.4718C>G (p.Pro1573Arg)	PKDREJ (P1573R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306972	NM_006071.2(PKDREJ):c.4711G>C (p.Val1571Leu)	PKDREJ (V1571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213727	NM_006071.2(PKDREJ):c.4705C>T (p.Arg1569Trp)	PKDREJ (R1569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306971	NM_006071.2(PKDREJ):c.4666C>G (p.Pro1556Ala)	PKDREJ (P1556A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356762	NM_006071.2(PKDREJ):c.4657G>A (p.Glu1553Lys)	PKDREJ (E1553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469774	NM_006071.2(PKDREJ):c.4616A>T (p.Asn1539Ile)	PKDREJ (N1539I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394900	NM_006071.2(PKDREJ):c.4572G>T (p.Arg1524Ser)	PKDREJ (R1524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213726	NM_006071.2(PKDREJ):c.4522C>T (p.Leu1508Phe)	PKDREJ (L1508F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252006	NM_006071.2(PKDREJ):c.4516C>T (p.Pro1506Ser)	PKDREJ (P1506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213725	NM_006071.2(PKDREJ):c.4486G>C (p.Glu1496Gln)	PKDREJ (E1496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459140	NM_006071.2(PKDREJ):c.4472A>C (p.Lys1491Thr)	PKDREJ (K1491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306966	NM_006071.2(PKDREJ):c.4455T>G (p.His1485Gln)	PKDREJ (H1485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607384	NM_006071.2(PKDREJ):c.4378A>C (p.Lys1460Gln)	PKDREJ (K1460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233552	NM_006071.2(PKDREJ):c.4337T>C (p.Phe1446Ser)	PKDREJ (F1446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313056	NM_006071.2(PKDREJ):c.4233T>G (p.Asn1411Lys)	PKDREJ (N1411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454818	NM_006071.2(PKDREJ):c.4099C>T (p.Arg1367Trp)	PKDREJ (R1367W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552455	NM_006071.2(PKDREJ):c.4066G>T (p.Asp1356Tyr)	PKDREJ (D1356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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