14121[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151635	GRCh38/hg38 16p13.3(chr16:16203-129081)x3	HBA-LCR, LOC121530606 +14 more	Copy number gain	See cases	GBenign
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 2499509	NC_000016.10:g.(30362_?)_(?_48162)del	LOC130058083, POLR3K	Deletion	Leukodystrophy, hypomyelinating, 21	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152889	GRCh38/hg38 16p13.3(chr16:43722-308914)x3	ARHGDIG, AXIN1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 144134	GRCh38/hg38 16p13.3(chr16:46766-80410)x1	LOC121530606, LOC130058084 +7 more	Copy number loss	See cases	GUncertain significance
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58387	GRCh38/hg38 16p13.3(chr16:46766-168972)x3	HBA-LCR, HBM +13 more	Copy number gain	See cases	GUncertain significance
Select item 2499507	NM_016310.5(POLR3K):c.322G>T (p.Asp108Tyr)	POLR3K (D108Y)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 21	GPathogenic
Select item 2258179	NM_016310.5(POLR3K):c.208C>G (p.Pro70Ala)	POLR3K (P70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272371	NM_016310.5(POLR3K):c.203C>T (p.Ser68Leu)	POLR3K (S68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237593	NM_016310.5(POLR3K):c.166G>T (p.Ala56Ser)	POLR3K (A56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435164	NM_016310.5(POLR3K):c.122G>A (p.Arg41Gln)	POLR3K (R41Q)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 21	GUncertain significance
Select item 1065610	NM_016310.5(POLR3K):c.121C>T (p.Arg41Trp)	POLR3K (R41W)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 21	GPathogenic
Select item 3216616	NM_016310.5(POLR3K):c.107G>C (p.Arg36Pro)	POLR3K (R36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435165	NM_016310.5(POLR3K):c.95ACA[1] (p.Asn33del)	POLR3K (N33del)	Microsatellite (inframe_deletion)	Leukodystrophy, hypomyelinating, 21	GUncertain significance
Select item 2645765	NM_016310.5(POLR3K):c.36G>C (p.Leu12=)	POLR3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1684554	GRCh37/hg19 16p13.3(chr16:96766-137939)x1	POLR3K, RHBDF1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1459499	NC_000016.9:g.(?_97132)_(163851_?)del	HBA2, MPG +4 more	Deletion	not provided	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831357	NC_000016.9:g.(?_97132)_(193701_?)del	HBA2, MPG +4 more	Deletion	not provided	GPathogenic
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688811	GRCh37/hg19 16p13.3(chr16:85880-111198)x3	POLR3K, RHBDF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 564250	GRCh37/hg19 16p13.3(chr16:85880-294656)x1	SNRNP25, HBA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564249	GRCh37/hg19 16p13.3(chr16:85880-147965)x1	SNRNP25, MPG +3 more	Copy number loss	not provided	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 393994	GRCh37/hg19 16p13.3(chr16:97133-109978)x3	POLR3K, RHBDF1 +1 more	Copy number gain	See cases	GBenign
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221507	GRCh37/hg19 16p13.3(chr16:97494-323799)x3	HBA2, HBM +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 64