"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEAK1"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041452	NM_001385026.1(PEAK1):c.5049C>T (p.Ser1683=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3057921	NM_001385026.1(PEAK1):c.4776G>A (p.Glu1592=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3041497	NM_001385026.1(PEAK1):c.4719C>T (p.Asp1573=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3052438	NM_001385026.1(PEAK1):c.4599C>G (p.Ala1533=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3051318	NM_001385026.1(PEAK1):c.4358A>G (p.Lys1453Arg)	PEAK1 (K1453R)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 3039075	NM_001385026.1(PEAK1):c.3924T>C (p.Leu1308=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3045176	NM_001385026.1(PEAK1):c.3727A>G (p.Ile1243Val)	PEAK1 (I1243V)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GBenign
Select item 3044499	NM_001385026.1(PEAK1):c.3714A>G (p.Leu1238=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3043997	NM_001385026.1(PEAK1):c.3687C>T (p.Pro1229=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3050261	NM_001385026.1(PEAK1):c.3579C>T (p.Asn1193=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GBenign
Select item 3035720	NM_001385026.1(PEAK1):c.3498G>C (p.Glu1166Asp)	PEAK1 (E1166D)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GBenign
Select item 3035156	NM_001385026.1(PEAK1):c.3331+8C>T	PEAK1	Single nucleotide variant (intron variant)	PEAK1-related disorder	GLikely benign
Select item 3047639	NM_001385026.1(PEAK1):c.3311G>A (p.Ser1104Asn)	PEAK1 (S1104N)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 3048507	NM_001385026.1(PEAK1):c.3229A>C (p.Thr1077Pro)	PEAK1 (T1077P)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GBenign
Select item 3050598	NM_001385026.1(PEAK1):c.2631T>C (p.Ser877=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3054912	NM_001385026.1(PEAK1):c.2311G>A (p.Val771Met)	PEAK1 (V771M)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 3031058	NM_001385026.1(PEAK1):c.1971C>G (p.Thr657=)	LOC130057657, PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3034699	NM_001385026.1(PEAK1):c.1318T>C (p.Ser440Pro)	PEAK1 (S440P)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 3049429	NM_001385026.1(PEAK1):c.738G>A (p.Glu246=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign