WRNIP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 59496	GRCh38/hg38 6p25.3-25.2(chr6:1796838-2854327)x3	GMDS, GMDS-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 3190791	NM_020135.3(WRNIP1):c.28C>T (p.Pro10Ser)	LOC129995612, MYLK4 +1 more (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333265	NM_020135.3(WRNIP1):c.50A>G (p.Gln17Arg)	LOC129995612, MYLK4 +1 more (Q17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298152	NM_020135.3(WRNIP1):c.52G>A (p.Val18Met)	LOC129995612, MYLK4 +1 more (V18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333264	NM_020135.3(WRNIP1):c.79A>C (p.Met27Leu)	LOC129995612, MYLK4 +1 more (M27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398315	NM_020135.3(WRNIP1):c.127C>T (p.His43Tyr)	LOC129995612, MYLK4 +1 more (H43Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514122	NM_020135.3(WRNIP1):c.178C>T (p.Arg60Trp)	LOC129995612, MYLK4 +1 more (R60W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486716	NM_020135.3(WRNIP1):c.233C>T (p.Ser78Leu)	MYLK4, WRNIP1 (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190790	NM_020135.3(WRNIP1):c.268G>C (p.Glu90Gln)	MYLK4, WRNIP1 (E90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605140	NM_020135.3(WRNIP1):c.291G>T (p.Glu97Asp)	MYLK4, WRNIP1 (E97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335796	NM_020135.3(WRNIP1):c.329G>T (p.Ser110Ile)	MYLK4, WRNIP1 (S110I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336198	NM_020135.3(WRNIP1):c.356G>T (p.Gly119Val)	MYLK4, WRNIP1 (G119V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224022	NM_020135.3(WRNIP1):c.370C>T (p.Pro124Ser)	MYLK4, WRNIP1 (P124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190792	NM_020135.3(WRNIP1):c.371C>T (p.Pro124Leu)	MYLK4, WRNIP1 (P124L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190793	NM_020135.3(WRNIP1):c.386C>T (p.Ala129Val)	LOC129995613, MYLK4 +1 more (A129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382711	NM_020135.3(WRNIP1):c.395G>C (p.Ser132Thr)	LOC129995613, MYLK4 +1 more (S132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190794	NM_020135.3(WRNIP1):c.418G>A (p.Gly140Arg)	LOC129995613, MYLK4 +1 more (G140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272550	NM_020135.3(WRNIP1):c.427C>T (p.Pro143Ser)	LOC129995613, MYLK4 +1 more (P143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599768	NM_020135.3(WRNIP1):c.440C>T (p.Ala147Val)	LOC129995613, MYLK4 +1 more (A147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342412	NM_020135.3(WRNIP1):c.443C>T (p.Ala148Val)	LOC129995613, MYLK4 +1 more (A148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333261	NM_020135.3(WRNIP1):c.449G>T (p.Gly150Val)	LOC129995613, MYLK4 +1 more (G150V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355025	NM_020135.3(WRNIP1):c.449G>C (p.Gly150Ala)	LOC129995613, MYLK4 +1 more (G150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549296	NM_020135.3(WRNIP1):c.454G>A (p.Ala152Thr)	LOC129995613, MYLK4 +1 more (A152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333263	NM_020135.3(WRNIP1):c.461C>T (p.Pro154Leu)	LOC129995613, MYLK4 +1 more (P154L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546026	NM_020135.3(WRNIP1):c.527G>A (p.Gly176Glu)	LOC129995613, MYLK4 +1 more (G176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732958	NM_020135.3(WRNIP1):c.534G>T (p.Ala178=)	LOC129995613, MYLK4 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2213364	NM_020135.3(WRNIP1):c.547G>A (p.Glu183Lys)	LOC129995613, MYLK4 +1 more (E183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254802	NM_020135.3(WRNIP1):c.557C>T (p.Pro186Leu)	LOC129995613, MYLK4 +1 more (P186L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190795	NM_020135.3(WRNIP1):c.560G>C (p.Gly187Ala)	LOC129995613, MYLK4 +1 more (G187A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345905	NM_020135.3(WRNIP1):c.581C>T (p.Ala194Val)	LOC129995613, MYLK4 +1 more (A194V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260174	NM_020135.3(WRNIP1):c.614G>A (p.Gly205Glu)	LOC129995613, MYLK4 +1 more (G205E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320243	NM_020135.3(WRNIP1):c.620G>T (p.Arg207Leu)	LOC129995613, MYLK4 +1 more (R207L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190797	NM_020135.3(WRNIP1):c.664C>G (p.Leu222Val)	LOC129995613, MYLK4 +1 more (L222V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219304	NM_020135.3(WRNIP1):c.668A>G (p.Gln223Arg)	LOC129995613, MYLK4 +1 more (Q223R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405303	NM_020135.3(WRNIP1):c.676C>T (p.Pro226Ser)	LOC129995613, MYLK4 +1 more (P226S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294609	NM_020135.3(WRNIP1):c.677C>G (p.Pro226Arg)	LOC129995613, MYLK4 +1 more (P226R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656176	NM_020135.3(WRNIP1):c.702C>T (p.Asp234=)	MYLK4, WRNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2483871	NM_020135.3(WRNIP1):c.703A>G (p.Thr235Ala)	MYLK4, WRNIP1 (T235A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333270	NM_020135.3(WRNIP1):c.728G>C (p.Ser243Thr)	MYLK4, WRNIP1 (S243T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656177	NM_020135.3(WRNIP1):c.757C>T (p.Arg253Cys)	MYLK4, WRNIP1 (R253C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 719968	NM_020135.3(WRNIP1):c.774C>G (p.Thr258=)	MYLK4, WRNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2211089	NM_020135.3(WRNIP1):c.785C>T (p.Pro262Leu)	MYLK4, WRNIP1 (P262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548719	NM_020135.3(WRNIP1):c.795C>G (p.Ile265Met)	MYLK4, WRNIP1 (I265M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190798	NM_020135.3(WRNIP1):c.852C>G (p.Asn284Lys)	MYLK4, WRNIP1 (N284K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770919	NM_020135.3(WRNIP1):c.863A>G (p.His288Arg)	MYLK4, WRNIP1 (H288R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2462538	NM_020135.3(WRNIP1):c.872G>A (p.Arg291Lys)	MYLK4, WRNIP1 (R291K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656178	NM_020135.3(WRNIP1):c.1002T>C (p.Asn334=)	MYLK4, WRNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2411404	NM_020135.3(WRNIP1):c.1096G>A (p.Ala366Thr)	MYLK4, WRNIP1 (A366T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3333262	NM_020135.3(WRNIP1):c.1111C>T (p.Arg371Cys)	MYLK4, WRNIP1 (R371C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3190781	NM_020135.3(WRNIP1):c.1225C>T (p.Pro409Ser)	MYLK4, WRNIP1 (P409S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3042810	NM_020135.3(WRNIP1):c.1230G>C (p.Leu410=)	MYLK4, WRNIP1	Single nucleotide variant (5 prime UTR variant +1 more)	WRNIP1-related disorder	GLikely benign
Select item 3190782	NM_020135.3(WRNIP1):c.1262C>T (p.Ala421Val)	WRNIP1 (A396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387550	NM_020135.3(WRNIP1):c.1266G>A (p.Met422Ile)	WRNIP1 (M422I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280107	NM_020135.3(WRNIP1):c.1279A>G (p.Lys427Glu)	WRNIP1 (K427E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190783	NM_020135.3(WRNIP1):c.1372A>G (p.Arg458Gly)	WRNIP1 (R458G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190784	NM_020135.3(WRNIP1):c.1481G>A (p.Arg494Gln)	WRNIP1 (R494Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224403	NM_020135.3(WRNIP1):c.1496A>G (p.His499Arg)	WRNIP1 (H474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190785	NM_020135.3(WRNIP1):c.1504T>A (p.Cys502Ser)	WRNIP1 (C502S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458602	NM_020135.3(WRNIP1):c.1532G>A (p.Arg511Gln)	WRNIP1 (R486Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190786	NM_020135.3(WRNIP1):c.1567G>A (p.Ala523Thr)	WRNIP1 (A498T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509608	NM_020135.3(WRNIP1):c.1570C>T (p.Arg524Cys)	WRNIP1 (R499C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606098	NM_020135.3(WRNIP1):c.1579G>A (p.Glu527Lys)	WRNIP1 (E502K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600095	NM_020135.3(WRNIP1):c.1583G>A (p.Gly528Glu)	WRNIP1 (G528E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333267	NM_020135.3(WRNIP1):c.1667C>G (p.Thr556Arg)	WRNIP1 (T556R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333268	NM_020135.3(WRNIP1):c.1679C>T (p.Ala560Val)	WRNIP1 (A535V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280997	NM_020135.3(WRNIP1):c.1744G>A (p.Val582Ile)	WRNIP1 (V557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333269	NM_020135.3(WRNIP1):c.1754C>T (p.Ala585Val)	WRNIP1 (A560V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190787	NM_020135.3(WRNIP1):c.1797C>A (p.Asn599Lys)	WRNIP1 (N574K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204252	NM_020135.3(WRNIP1):c.1798G>A (p.Val600Ile)	WRNIP1 (V600I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285972	NM_020135.3(WRNIP1):c.1838C>G (p.Pro613Arg)	WRNIP1 (P613R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285973	NM_020135.3(WRNIP1):c.1883A>T (p.Asp628Val)	WRNIP1 (D628V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190789	NM_020135.3(WRNIP1):c.1915C>G (p.Pro639Ala)	WRNIP1 (P639A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599366	NM_020135.3(WRNIP1):c.1924A>G (p.Ser642Gly)	WRNIP1 (S617G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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