S100Z[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 3315953	NM_130772.4(S100Z):c.28G>T (p.Asp10Tyr)	S100Z (D10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209577	NM_130772.4(S100Z):c.79T>C (p.Phe27Leu)	S100Z (F27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591509	NM_130772.4(S100Z):c.250G>A (p.Val84Ile)	S100Z (V84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607392	NM_130772.4(S100Z):c.296A>T (p.Lys99Ile)	S100Z (K99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563080	GRCh37/hg19 5q13.3(chr5:76159960-76718626)x3	AGGF1, CRHBP +3 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic