ClinVar for Gene (Select 9117) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317087	NM_032970.4(SEC22C):c.166T>C (p.Cys56Arg)	SEC22C (C56R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317086	NM_032970.4(SEC22C):c.703A>G (p.Ile235Val)	SEC22C (I235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317085	NM_032970.4(SEC22C):c.832C>T (p.His278Tyr)	SEC22C (H278Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170294	NM_001370300.1(SS18L2):c.35G>C (p.Gly12Ala)	SEC22C, SS18L2 (G12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159240	NM_032970.4(SEC22C):c.901T>C (p.Cys301Arg)	SEC22C (C301R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615648	NM_032970.4(SEC22C):c.319T>G (p.Ser107Ala)	SEC22C (S107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615075	NM_032970.4(SEC22C):c.293A>G (p.Tyr98Cys)	SEC22C (Y98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566404	NM_001370300.1(SS18L2):c.142G>A (p.Val48Met)	SEC22C, SS18L2 (V48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562655	NM_032970.4(SEC22C):c.801C>A (p.His267Gln)	SEC22C (H267Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560571	NM_032970.4(SEC22C):c.736C>T (p.Pro246Ser)	SEC22C (P246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545145	NM_032970.4(SEC22C):c.788A>C (p.Asn263Thr)	SEC22C (N263T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544329	NM_032970.4(SEC22C):c.683T>C (p.Leu228Pro)	SEC22C (L228P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512739	NM_005385.4(NKTR):c.8C>T (p.Ala3Val)	NKTR, SEC22C (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493966	NM_032970.4(SEC22C):c.116G>A (p.Ser39Asn)	SEC22C (S39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400737	NM_001370300.1(SS18L2):c.109G>A (p.Glu37Lys)	SEC22C, SS18L2 (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330100	NM_032970.4(SEC22C):c.244A>G (p.Met82Val)	SEC22C (M82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322200	NM_032970.4(SEC22C):c.106C>T (p.Arg36Trp)	SEC22C (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310818	NM_032970.4(SEC22C):c.893A>C (p.Gln298Pro)	SEC22C (Q298P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288598	NM_001370300.1(SS18L2):c.90G>T (p.Gln30His)	SEC22C, SS18L2 (Q30H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240844	NM_032970.4(SEC22C):c.628G>A (p.Ala210Thr)	SEC22C (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208148	NM_032970.4(SEC22C):c.149G>A (p.Arg50Gln)	SEC22C (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527013	GRCh37/hg19 3p22.1(chr3:42566141-42673896)	NKTR, SEC22C +2 more	Copy number loss	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 980512	GRCh37/hg19 3p22.1(chr3:42008472-42610176)x3	LYZL4, SEC22C +3 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 57726	GRCh38/hg38 3p22.1(chr3:41880503-42550279)x3	CCK, LOC121009659 +36 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 30