"PreventionGenetics, part of Exact Sciences"[submitter] AND "PADI6"[ge - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031452	NM_207421.4(PADI6):c.135C>T (p.Cys45=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 1334958	NM_207421.4(PADI6):c.243G>A (p.Thr81=)	PADI6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054182	NM_207421.4(PADI6):c.246C>T (p.Tyr82=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3054892	NM_207421.4(PADI6):c.249C>T (p.Ala83=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3033044	NM_207421.4(PADI6):c.264A>G (p.Thr88=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 1176184	NM_207421.4(PADI6):c.286G>A (p.Ala96Thr)	PADI6 (A96T)	Single nucleotide variant (missense variant)	PADI6-related disorder +1 more	GLikely benign
Select item 3054348	NM_207421.4(PADI6):c.368-10_368-8del	PADI6	Microsatellite (intron variant)	PADI6-related disorder	GLikely benign
Select item 2633287	NM_207421.4(PADI6):c.441dup (p.Trp148fs)	PADI6 (W148fs)	Duplication (frameshift variant)	PADI6-related disorder	GLikely pathogenic
Select item 3049097	NM_207421.4(PADI6):c.651G>A (p.Ser217=)	LOC126805634, PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3054843	NM_207421.4(PADI6):c.660G>A (p.Ala220=)	LOC126805634, PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3036779	NM_207421.4(PADI6):c.711G>C (p.Leu237=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3052593	NM_207421.4(PADI6):c.775G>A (p.Val259Ile)	PADI6 (V259I)	Single nucleotide variant (missense variant)	PADI6-related disorder	GBenign
Select item 3039432	NM_207421.4(PADI6):c.873T>C (p.Thr291=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3054283	NM_207421.4(PADI6):c.879G>A (p.Leu293=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3040422	NM_207421.4(PADI6):c.897G>A (p.Val299=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3030468	NM_207421.4(PADI6):c.999G>A (p.Thr333=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3055140	NM_207421.4(PADI6):c.1017C>T (p.Ser339=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3048665	NM_207421.4(PADI6):c.1075-6T>C	LOC126805635, PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3045571	NM_207421.4(PADI6):c.1182+9C>T	LOC126805635, PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3036080	NM_207421.4(PADI6):c.1183-9C>A	LOC126805635, PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3054430	NM_207421.4(PADI6):c.1515C>T (p.Ala505=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3047619	NM_207421.4(PADI6):c.1569C>T (p.Gly523=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3047296	NM_207421.4(PADI6):c.1572C>T (p.Asp524=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3032520	NM_207421.4(PADI6):c.1626A>G (p.Glu542=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3046023	NM_207421.4(PADI6):c.1690-23CCCA[8]	PADI6	Microsatellite (intron variant)	PADI6-related disorder	GLikely benign
Select item 3035678	NM_207421.4(PADI6):c.1690-23CCCA[7]	PADI6	Microsatellite (intron variant)	PADI6-related disorder	GLikely benign
Select item 3031012	NM_207421.4(PADI6):c.1719G>A (p.Leu573=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3055206	NM_207421.4(PADI6):c.1782G>A (p.Glu594=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3057573	NM_207421.4(PADI6):c.1851+9C>T	PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3053209	NM_207421.4(PADI6):c.1851+10G>A	PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3052576	NM_207421.4(PADI6):c.1998T>C (p.Cys666=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3050975	NM_207421.4(PADI6):c.2037C>T (p.Asn679=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign

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Items: 32