ClinVar for Gene (Select 100129455) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106751	NM_019558.4(HOXD8):c.118G>A (p.Val40Ile)	HOXD8, LOC100129455 (V40I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2569321	NM_019558.4(HOXD8):c.127C>T (p.Arg43Cys)	HOXD8, LOC100129455 (R43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393736	NM_019558.4(HOXD8):c.130C>T (p.His44Tyr)	HOXD8, LOC100129455 (H44Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320582	NM_019558.4(HOXD8):c.130C>G (p.His44Asp)	HOXD8, LOC100129455 (H44D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305757	NM_019558.4(HOXD8):c.139G>T (p.Ala47Ser)	HOXD8, LOC100129455 (A47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299094	NM_019558.4(HOXD8):c.31T>C (p.Ser11Pro)	HOXD8, LOC100129455 (S11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249915	NM_019558.4(HOXD8):c.88A>C (p.Thr30Pro)	HOXD8, LOC100129455 (T30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240763	NM_019558.4(HOXD8):c.143C>A (p.Ala48Glu)	HOXD8, LOC100129455 (A48E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 148781	GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1	EVX2, HOXD-AS2 +13 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 20