ClinVar for Gene (Select 340156) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3297653	NM_001012418.5(MYLK4):c.848C>G (p.Pro283Arg)	MYLK4 (P339R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297652	NM_001012418.5(MYLK4):c.562C>A (p.Leu188Met)	MYLK4 (L188M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297650	NM_001012418.5(MYLK4):c.701T>A (p.Leu234Gln)	MYLK4 (L290Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297649	NM_001012418.5(MYLK4):c.272G>A (p.Arg91His)	MYLK4 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297648	NM_001012418.5(MYLK4):c.511G>A (p.Glu171Lys)	MYLK4 (E171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297647	NM_001012418.5(MYLK4):c.571C>T (p.Arg191Cys)	MYLK4 (R191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297646	NM_001012418.5(MYLK4):c.232G>A (p.Ala78Thr)	MYLK4 (A134T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297645	NM_001012418.5(MYLK4):c.759A>G (p.Arg253=)	MYLK4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 3160270	NM_001012418.5(MYLK4):c.985G>T (p.Asp329Tyr)	MYLK4 (D329Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160264	NM_001012418.5(MYLK4):c.895G>A (p.Gly299Ser)	MYLK4 (G299S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160252	NM_001012418.5(MYLK4):c.739G>T (p.Asp247Tyr)	MYLK4 (D303Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160247	NM_001012418.5(MYLK4):c.647G>T (p.Arg216Met)	MYLK4 (R216M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160237	NM_001012418.5(MYLK4):c.51C>G (p.Asn17Lys)	MYLK4 (N73K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160230	NM_001012418.5(MYLK4):c.482C>T (p.Ala161Val)	MYLK4 (A161V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160225	NM_001012418.5(MYLK4):c.416C>G (p.Thr139Ser)	MYLK4 (T195S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160222	NM_001012418.5(MYLK4):c.356A>G (p.Gln119Arg)	MYLK4 (Q175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062921	GRCh37/hg19 6p25.3-25.2(chr6:1479303-2693757)x3	FOXC1, GMDS +2 more	Copy number gain	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 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
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 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 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 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 2601531	NM_001012418.5(MYLK4):c.580G>A (p.Asp194Asn)	MYLK4 (D194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601353	NM_001012418.5(MYLK4):c.630G>C (p.Gln210His)	MYLK4 (Q266H +1 more)	Single nucleotide variant (missense variant)	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 2597977	NM_001012418.5(MYLK4):c.41A>G (p.Tyr14Cys)	MYLK4 (Y14C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
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 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 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 2516562	NM_001012418.5(MYLK4):c.161C>T (p.Ala54Val)	MYLK4 (A54V +1 more)	Single nucleotide variant (missense variant)	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 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 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 2459098	NM_001012418.5(MYLK4):c.271C>A (p.Arg91Ser)	MYLK4 (R147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 2374274	NM_001012418.5(MYLK4):c.491T>C (p.Ile164Thr)	MYLK4 (I164T +1 more)	Single nucleotide variant (missense variant)	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 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 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 2342402	NM_001012418.5(MYLK4):c.812C>A (p.Ala271Asp)	MYLK4 (A271D +1 more)	Single nucleotide variant (missense variant)	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 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 2322400	NM_001012418.5(MYLK4):c.202C>T (p.Pro68Ser)	MYLK4 (P124S +1 more)	Single nucleotide variant (missense variant)	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 2313904	NM_001012418.5(MYLK4):c.811G>A (p.Ala271Thr)	MYLK4 (A271T +1 more)	Single nucleotide variant (missense variant)	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 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 2293383	NM_001012418.5(MYLK4):c.889C>A (p.Leu297Ile)	MYLK4 (L297I +1 more)	Single nucleotide variant (missense variant)	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 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 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 2252264	NM_001012418.5(MYLK4):c.1025T>C (p.Leu342Pro)	MYLK4 (L342P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230478	NM_001012418.5(MYLK4):c.917A>T (p.Asp306Val)	MYLK4 (D306V +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 2206487	NM_001012418.5(MYLK4):c.932C>T (p.Thr311Met)	MYLK4 (T311M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1808377	GRCh37/hg19 6p25.3-25.2(chr6:2162500-2864248)x3	GMDS, LINC01600 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1340666	GRCh37/hg19 6p25.2(chr6:2370075-2688038)x3	LINC01600, MYLK4	Copy number gain	not provided	GLikely benign
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 814773	GRCh37/hg19 6p25.3-25.2(chr6:2167407-2775133)x3	WRNIP1, MYLK4 +2 more	Copy number gain	not provided	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 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 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 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic

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