ZNG1B[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199133	NM_172003.3(ZNG1B):c.7C>G (p.Pro3Ala)	ZNG1B (P3A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199125	NM_172003.3(ZNG1B):c.26A>T (p.Asp9Val)	ZNG1B (D9V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199126	NM_172003.3(ZNG1B):c.28G>A (p.Glu10Lys)	ZNG1B (E10K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493612	NM_172003.3(ZNG1B):c.112C>T (p.Leu38Phe)	ZNG1B (L38F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199124	NM_172003.3(ZNG1B):c.246T>G (p.Ser82Arg)	ZNG1B (S46R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570056	NM_172003.3(ZNG1B):c.316G>A (p.Gly106Ser)	ZNG1B (G106S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2651289	NM_172003.3(ZNG1B):c.318T>G (p.Gly106=)	ZNG1B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2609341	NM_172003.3(ZNG1B):c.410C>T (p.Thr137Ile)	ZNG1B (T101I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259921	NM_172003.3(ZNG1B):c.427C>T (p.Pro143Ser)	ZNG1B (P107S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199128	NM_172003.3(ZNG1B):c.460G>A (p.Ala154Thr)	ZNG1B (A118T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199129	NM_172003.3(ZNG1B):c.494T>C (p.Ile165Thr)	ZNG1B (I165T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199130	NM_172003.3(ZNG1B):c.525A>T (p.Leu175Phe)	ZNG1B (L175F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199131	NM_172003.3(ZNG1B):c.563A>G (p.Asn188Ser)	ZNG1B (N152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597625	NM_172003.3(ZNG1B):c.640A>G (p.Lys214Glu)	ZNG1B (K178E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593235	NM_172003.3(ZNG1B):c.716T>C (p.Leu239Pro)	ZNG1B (L210P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199132	NM_172003.3(ZNG1B):c.796A>G (p.Thr266Ala)	ZNG1B (T230A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199134	NM_172003.3(ZNG1B):c.947T>C (p.Leu316Pro)	ZNG1B (L297P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199122	NM_172003.3(ZNG1B):c.1113G>C (p.Gln371His)	ZNG1B (Q203H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199123	NM_172003.3(ZNG1B):c.1156A>G (p.Thr386Ala)	ZNG1B (T350A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic

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Items: 29