LOC129937464[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3199688	NM_025112.5(ZXDC):c.203A>T (p.Asp68Val)	LOC129937464, ZXDC (D68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199687	NM_025112.5(ZXDC):c.202G>T (p.Asp68Tyr)	LOC129937464, ZXDC (D68Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528213	NM_025112.5(ZXDC):c.188C>T (p.Pro63Leu)	LOC129937464, ZXDC (P63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229955	NM_025112.5(ZXDC):c.170A>C (p.Glu57Ala)	LOC129937464, ZXDC (E57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260207	NM_025112.5(ZXDC):c.167G>T (p.Gly56Val)	LOC129937464, ZXDC (G56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260208	NM_025112.5(ZXDC):c.124C>A (p.Leu42Met)	LOC129937464, ZXDC (L42M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511235	NM_025112.5(ZXDC):c.112C>T (p.Arg38Cys)	LOC129937464, ZXDC (R38C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491013	NM_025112.5(ZXDC):c.77G>A (p.Arg26Gln)	LOC129937464, ZXDC (R26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260206	NM_025112.5(ZXDC):c.65G>A (p.Gly22Asp)	ZXDC, LOC129937464 (G22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398492	NM_025112.5(ZXDC):c.62C>T (p.Pro21Leu)	LOC129937464, ZXDC (P21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199700	NM_025112.5(ZXDC):c.53G>A (p.Gly18Asp)	LOC129937464, ZXDC (G18D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199678	NM_025112.5(ZXDC):c.14C>T (p.Ala5Val)	LOC129937464, ZXDC (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608390	NM_025112.5(ZXDC):c.11C>T (p.Pro4Leu)	LOC129937464, ZXDC (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20