17482[HGNC] - ClinVar - NCBI

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	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 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 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 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 2613743	NM_013345.4(GPR132):c.1133A>T (p.Glu378Val)	GPR132 (E378V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346814	NM_013345.4(GPR132):c.1119G>T (p.Lys373Asn)	GPR132 (K373N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768680	NM_013345.4(GPR132):c.1054G>T (p.Ala352Ser)	GPR132 (A164S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2530058	NM_013345.4(GPR132):c.1036G>A (p.Glu346Lys)	GPR132 (E158K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101403	NM_013345.4(GPR132):c.982G>C (p.Glu328Gln)	GPR132 (E328Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101402	NM_013345.4(GPR132):c.974G>T (p.Gly325Val)	GPR132 (G316V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101401	NM_013345.4(GPR132):c.935C>T (p.Thr312Met)	GPR132 (T124M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101399	NM_013345.4(GPR132):c.800C>G (p.Ala267Gly)	GPR132 (A267G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101398	NM_013345.4(GPR132):c.790G>T (p.Val264Phe)	GPR132 (V264F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101397	NM_013345.4(GPR132):c.790G>A (p.Val264Ile)	GPR132 (V255I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337710	NM_013345.4(GPR132):c.767C>T (p.Ala256Val)	GPR132 (A247V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768681	NM_013345.4(GPR132):c.729G>A (p.Ser243=)	GPR132	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3101396	NM_013345.4(GPR132):c.662G>T (p.Arg221Leu)	GPR132 (R212L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274260	NM_013345.4(GPR132):c.661C>T (p.Arg221Trp)	GPR132 (R221W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386850	NM_013345.4(GPR132):c.592G>A (p.Gly198Arg)	GPR132 (G198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235801	NM_013345.4(GPR132):c.586A>T (p.Ile196Phe)	GPR132 (I187F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3282196	NM_013345.4(GPR132):c.552G>C (p.Glu184Asp)	GPR132 (E184D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494444	NM_013345.4(GPR132):c.551A>T (p.Glu184Val)	GPR132 (E175V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282195	NM_013345.4(GPR132):c.539C>T (p.Thr180Met)	GPR132 (T171M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 768682	NM_013345.4(GPR132):c.507C>G (p.Leu169=)	GPR132	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2603965	NM_013345.4(GPR132):c.496A>G (p.Ile166Val)	GPR132 (I157V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2237572	NM_013345.4(GPR132):c.475G>A (p.Ala159Thr)	GPR132 (A150T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282194	NM_013345.4(GPR132):c.464G>A (p.Arg155His)	GPR132 (R146H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101395	NM_013345.4(GPR132):c.463C>T (p.Arg155Cys)	GPR132 (R155C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282193	NM_013345.4(GPR132):c.430G>A (p.Val144Met)	GPR132 (V135M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282197	NM_013345.4(GPR132):c.382G>A (p.Val128Ile)	GPR132 (V119I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478732	NM_013345.4(GPR132):c.361A>G (p.Ile121Val)	GPR132 (I112V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282199	NM_013345.4(GPR132):c.239A>G (p.Tyr80Cys)	GPR132 (Y71C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317890	NM_013345.4(GPR132):c.238T>C (p.Tyr80His)	GPR132 (Y71H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787419	NM_013345.4(GPR132):c.114C>T (p.Phe38=)	GPR132	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2305616	NM_013345.4(GPR132):c.102C>A (p.Asn34Lys)	GPR132 (N25K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101400	NM_013345.4(GPR132):c.88G>A (p.Ala30Thr)	GPR132 (A30T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293785	NM_013345.4(GPR132):c.53C>T (p.Thr18Ile)	GPR132 (T18I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334210	NM_013345.4(GPR132):c.47C>T (p.Pro16Leu)	GPR132 (P7L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	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 3148870	GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3	BRF1, BTBD6 +22 more	Copy number gain	See cases	GUncertain significance
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 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	CDCA4, IGHA2 +32 more	Copy number gain	not provided	GUncertain significance
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 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2424377	NC_000014.8:g.(?_105452081)_(105644072_?)del	CDCA4, CLBA1 +3 more	Deletion	not provided	GUncertain significance
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 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
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 980626	GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3	ZBTB42, CLBA1 +8 more	Copy number gain	not provided	GUncertain significance
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 815683	GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	IGHA2, CEP170B +27 more	Copy number loss	not provided	GPathogenic
Select item 815682	GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	ZBTB42, ADSS1 +34 more	Copy number loss	not provided	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	RCOR1, TNFAIP2 +56 more	Copy number loss	not provided	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 687600	GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	ADSS1, AHNAK2 +33 more	Copy number loss	not provided	GUncertain significance
Select item 687405	GRCh37/hg19 14q32.33(chr14:105500759-106044679)x3	PACS2, TEDC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 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 625708	GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	KLC1, MARK3 +30 more	Copy number loss	not provided	GLikely pathogenic
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 443538	GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1	ADSS1, AHNAK2 +34 more	Copy number loss	See cases	GPathogenic
Select item 443301	GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	ADSS1, AHNAK2 +49 more	Copy number loss	See cases	GPathogenic

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