PHB1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	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 13393	PHB:c.*729C>T	PHB1	Single nucleotide variant (3 prime UTR variant)	Breast cancer, susceptibility to	Grisk factor
Select item 784359	NM_002634.4(PHB1):c.753C>T (p.Leu251=)	PHB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1254039	NM_002634.4(PHB1):c.511-12C>G	PHB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047679	NM_002634.4(PHB1):c.456C>T (p.Asp152=)	PHB1	Single nucleotide variant (synonymous variant +1 more)	PHB1-related disorder	GLikely benign
Select item 3059217	NM_002634.4(PHB1):c.393+9A>G	PHB1	Single nucleotide variant (intron variant)	PHB1-related disorder	GBenign
Select item 3211969	NM_002634.4(PHB1):c.310C>T (p.Pro104Ser)	PHB1 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620509	NM_002634.4(PHB1):c.239C>G (p.Thr80Ser)	PHB1 (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619603	NM_002634.4(PHB1):c.202G>T (p.Asp68Tyr)	PHB1 (D68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211968	NM_002634.4(PHB1):c.152G>A (p.Gly51Glu)	PHB1 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445301	NM_002634.4(PHB1):c.64G>A (p.Val22Met)	PHB1 (V22M)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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

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Items: 23