NXPH3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 2399540	NM_007225.4(NXPH3):c.62G>A (p.Cys21Tyr)	NXPH3 (C21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203560	NM_007225.4(NXPH3):c.89C>T (p.Ser30Leu)	NXPH3 (S30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268429	NM_007225.4(NXPH3):c.94G>A (p.Asp32Asn)	NXPH3 (D32N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535049	NM_007225.4(NXPH3):c.115G>A (p.Glu39Lys)	NXPH3 (E39K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203553	NM_007225.4(NXPH3):c.128G>A (p.Arg43Gln)	NXPH3 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318893	NM_007225.4(NXPH3):c.134G>A (p.Arg45Gln)	NXPH3 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301745	NM_007225.4(NXPH3):c.212C>T (p.Pro71Leu)	NXPH3 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203554	NM_007225.4(NXPH3):c.232A>G (p.Ile78Val)	NXPH3 (I78V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203555	NM_007225.4(NXPH3):c.238G>A (p.Gly80Arg)	NXPH3 (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367457	NM_007225.4(NXPH3):c.244C>T (p.Pro82Ser)	NXPH3 (P82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203556	NM_007225.4(NXPH3):c.254G>A (p.Arg85His)	NXPH3 (R85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222749	NM_007225.4(NXPH3):c.266G>A (p.Ser89Asn)	NXPH3 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509959	NM_007225.4(NXPH3):c.310G>A (p.Asp104Asn)	NXPH3 (D104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325397	NM_007225.4(NXPH3):c.337G>A (p.Ala113Thr)	NXPH3 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203557	NM_007225.4(NXPH3):c.368T>C (p.Val123Ala)	NXPH3 (V123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617295	NM_007225.4(NXPH3):c.371A>G (p.Asp124Gly)	NXPH3 (D124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203558	NM_007225.4(NXPH3):c.394G>A (p.Val132Ile)	NXPH3 (V132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296055	NM_007225.4(NXPH3):c.553G>A (p.Gly185Ser)	NXPH3 (G185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295452	NM_007225.4(NXPH3):c.592A>G (p.Ile198Val)	NXPH3 (I198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282781	NM_007225.4(NXPH3):c.655G>A (p.Val219Ile)	NXPH3 (V219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485408	NM_007225.4(NXPH3):c.722A>G (p.Asn241Ser)	NXPH3 (N241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203559	NM_007225.4(NXPH3):c.737C>G (p.Thr246Ser)	NXPH3 (T246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33