INSIG2[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 3286141	NM_016133.4(INSIG2):c.29G>A (p.Gly10Glu)	INSIG2 (G10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404458	NM_016133.4(INSIG2):c.40T>A (p.Cys14Ser)	INSIG2 (C14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286140	NM_016133.4(INSIG2):c.100G>A (p.Val34Met)	INSIG2 (V34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109903	NM_016133.4(INSIG2):c.118G>T (p.Val40Leu)	INSIG2 (V40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109904	NM_016133.4(INSIG2):c.167C>T (p.Thr56Met)	INSIG2 (T56M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770694	NM_016133.4(INSIG2):c.345T>C (p.Phe115=)	INSIG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319860	NM_016133.4(INSIG2):c.356A>G (p.Asn119Ser)	INSIG2 (N119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558262	NM_016133.4(INSIG2):c.403C>T (p.Leu135Phe)	INSIG2 (L27F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240770	NM_016133.4(INSIG2):c.403C>G (p.Leu135Val)	INSIG2 (L27V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240439	NM_016133.4(INSIG2):c.425T>C (p.Ile142Thr)	INSIG2 (I142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286139	NM_016133.4(INSIG2):c.601A>G (p.Ile201Val)	INSIG2 (I201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780834	NM_016133.4(INSIG2):c.627A>G (p.Gln209=)	INSIG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3286142	NM_016133.4(INSIG2):c.634A>G (p.Met212Val)	INSIG2 (M212V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286138	NM_016133.4(INSIG2):c.652A>T (p.Ile218Phe)	INSIG2 (I218F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 32