PANK3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 148094	GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3	FBLL1, LOC123575611 +30 more	Copy number gain	See cases	GUncertain significance
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 2592420	NM_024594.4(PANK3):c.1094G>A (p.Gly365Glu)	PANK3 (G365E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208340	NM_024594.4(PANK3):c.972A>T (p.Leu324Phe)	PANK3 (L324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257391	NM_024594.4(PANK3):c.850G>A (p.Val284Ile)	PANK3 (V284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496043	NM_024594.4(PANK3):c.842G>A (p.Arg281Gln)	PANK3 (R281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255219	NM_024594.4(PANK3):c.706G>C (p.Glu236Gln)	PANK3 (E236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621824	NM_024594.4(PANK3):c.482A>G (p.Tyr161Cys)	PANK3 (Y161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291254	NM_024594.4(PANK3):c.382A>G (p.Ile128Val)	PANK3 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324747	NM_024594.4(PANK3):c.241A>G (p.Asn81Asp)	PANK3 (N81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616381	NM_024594.4(PANK3):c.62C>G (p.Thr21Ser)	PANK3 (T21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776131	NM_024594.4(PANK3):c.29-11dup	PANK3	Duplication (intron variant)	not provided	GBenign
Select item 3062853	GRCh37/hg19 5q34-35.1(chr5:167580162-168867423)x1	MIR103A1, PANK3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 2685182	GRCh37/hg19 5q34(chr5:163825772-168355129)x1	MIR103A1, PANK3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684435	GRCh37/hg19 5q34(chr5:167244760-167992937)x3	MIR103A1, PANK3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2425244	NC_000005.9:g.(?_167849013)_(169661202_?)del	C5orf58, DOCK2 +8 more	Deletion	DOCK2 deficiency	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 980751	GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1	C5orf58, DOCK2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 33