19667[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 3332745	NM_144574.4(WDR20):c.7A>G (p.Thr3Ala)	WDR20 (T3A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2569580	NM_144574.4(WDR20):c.122A>G (p.Asn41Ser)	LOC130056509, WDR20 (N41S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2396731	NM_144574.4(WDR20):c.205G>A (p.Val69Met)	LOC130056509, WDR20 (V69M +1 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2332204	NM_144574.4(WDR20):c.238G>A (p.Gly80Arg)	WDR20 (G80R)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2388019	NM_144574.4(WDR20):c.320A>G (p.Asn107Ser)	WDR20 (N119S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2513278	NM_144574.4(WDR20):c.352C>T (p.Leu118Phe)	WDR20 (L130F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3335892	NM_144574.4(WDR20):c.432+2718_432+2721dup	WDR20 (V174fs)	Duplication (frameshift variant +2 more)	Global developmental delay +2 more	GUncertain significance
Select item 2206888	NM_144574.4(WDR20):c.478G>A (p.Gly160Ser)	WDR20 (G110S +6 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2534735	NM_144574.4(WDR20):c.544A>G (p.Thr182Ala)	WDR20 (T213A +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2602959	NM_144574.4(WDR20):c.601G>A (p.Val201Met)	WDR20 (V151M +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2302199	NM_144574.4(WDR20):c.637C>T (p.Leu213Phe)	WDR20 (L152F +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3189894	NM_144574.4(WDR20):c.640C>T (p.Leu214Phe)	WDR20 (L214F +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2603289	NM_144574.4(WDR20):c.658G>A (p.Glu220Lys)	WDR20 (E47K +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2283469	NM_144574.4(WDR20):c.694G>T (p.Gly232Cys)	WDR20 (G171C +7 more)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3332748	NM_144574.4(WDR20):c.702C>A (p.Phe234Leu)	WDR20 (F173L +7 more)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3332747	NM_144574.4(WDR20):c.734G>A (p.Arg245Gln)	WDR20 (R196Q +7 more)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 2467214	NM_144574.4(WDR20):c.824A>G (p.Lys275Arg)	WDR20 (K102R +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2328314	NM_144574.4(WDR20):c.829A>G (p.Ile277Val)	WDR20 (I104V +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2405299	NM_144574.4(WDR20):c.983G>T (p.Ser328Ile)	WDR20 (S267I +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2366817	NM_144574.4(WDR20):c.991G>A (p.Asp331Asn)	WDR20 (D270N +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3189889	NM_144574.4(WDR20):c.1195A>G (p.Thr399Ala)	WDR20 (T142A +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3189890	NM_144574.4(WDR20):c.1216G>A (p.Ala406Thr)	WDR20 (A275T +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2256191	NM_144574.4(WDR20):c.1231G>C (p.Ala411Pro)	WDR20 (A154P +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3332746	NM_144574.4(WDR20):c.1249A>G (p.Ser417Gly)	WDR20 (S368G +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2233204	NM_144574.4(WDR20):c.1315G>T (p.Ala439Ser)	WDR20 (A451S +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3189891	NM_144574.4(WDR20):c.1376G>A (p.Ser459Asn)	WDR20 (S202N +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2570052	NM_144574.4(WDR20):c.1448G>C (p.Ser483Thr)	WDR20 (S310T +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3189892	NM_144574.4(WDR20):c.1472G>A (p.Ser491Asn)	WDR20 (S234N +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3189893	NM_144574.4(WDR20):c.1547G>A (p.Arg516Gln)	WDR20 (R259Q +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	PACS2, PLD4 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	TRMT61A, XRCC3 +47 more	Duplication	not provided	GUncertain significance
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	BRF1, AHNAK2 +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	INF2, JAG2 +67 more	Copy number loss	not provided	GPathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	ADSS1, AHNAK2 +53 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 75