27972[HGNC] - 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 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +129 more	Copy number loss	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 58421	GRCh38/hg38 6p25.3-25.2(chr6:1490636-2700006)x1	FOXC1, FOXCUT +24 more	Copy number loss	See cases	GPathogenic
Select item 150317	GRCh38/hg38 6p25.3-25.2(chr6:1490637-2677489)x3	FOXC1, FOXCUT +24 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 3297645	NM_001012418.5(MYLK4):c.759A>G (p.Arg253=)	MYLK4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 207879	NM_001012418.5(MYLK4):c.451G>A (p.Glu151Lys)	MYLK4 (E151K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 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 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 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 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 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 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 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 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

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