ClinVar for Gene (Select 10578) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100660	NM_006433.5(GNLY):c.89A>G (p.Asp30Gly)	GNLY (D15G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100659	NM_006433.5(GNLY):c.215T>C (p.Ile72Thr)	GNLY (I57T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595816	NM_006433.5(GNLY):c.383C>T (p.Ala128Val)	GNLY (A113V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556804	NM_006433.5(GNLY):c.114T>G (p.Asp38Glu)	GNLY (D38E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556036	NM_006433.5(GNLY):c.290G>A (p.Arg97Lys)	GNLY (R82K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 2347109	NM_006433.5(GNLY):c.158G>T (p.Gly53Val)	GNLY (G38V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343590	NM_006433.5(GNLY):c.131C>T (p.Pro44Leu)	GNLY (P44L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332184	NM_006433.5(GNLY):c.14C>T (p.Ala5Val)	GNLY (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 786859	NM_006433.5(GNLY):c.78T>C (p.Pro26=)	GNLY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780828	NM_006433.5(GNLY):c.11G>A (p.Trp4Ter)	GNLY (W4*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 728937	NM_006433.5(GNLY):c.8C>T (p.Thr3Ile)	GNLY (T3I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28