LOC126806798[gene] - ClinVar

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Items: 33

	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 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 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 1179358	NM_021964.3(ZNF148):c.*13del (p.Ter795=)	LOC126806798, ZNF148	Deletion (no sequence alteration)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GBenign
Select item 547906	NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)	LOC126806798, ZNF148 (R778fs +1 more)	Microsatellite (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 1703131	NM_021964.3(ZNF148):c.2272C>T (p.Arg758Trp)	LOC126806798, ZNF148 (R716W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3194093	NM_021964.3(ZNF148):c.2119G>T (p.Asp707Tyr)	LOC126806798, ZNF148 (D665Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350558	NM_021964.3(ZNF148):c.2097C>T (p.Ala699=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related disorder	GLikely benign
Select item 727958	NM_021964.3(ZNF148):c.2052G>A (p.Gln684=)	ZNF148, LOC126806798	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632286	NM_021964.3(ZNF148):c.2014G>C (p.Asp672His)	LOC126806798, ZNF148 (D630H +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder	GUncertain significance
Select item 2430001	NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)	LOC126806798, ZNF148 (S623C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 713344	NM_021964.3(ZNF148):c.1974C>T (p.Ser658=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507969	NM_021964.3(ZNF148):c.1913C>A (p.Pro638Gln)	LOC126806798, ZNF148 (P638Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3053426	NM_021964.3(ZNF148):c.1878G>A (p.Pro626=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related disorder	GLikely benign
Select item 1049434	NM_021964.3(ZNF148):c.1871A>G (p.Asn624Ser)	LOC126806798, ZNF148 (N582S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3334992	NM_021964.3(ZNF148):c.1799A>G (p.Asn600Ser)	LOC126806798, ZNF148 (N600S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662777	NM_021964.3(ZNF148):c.1795G>T (p.Ala599Ser)	LOC126806798, ZNF148 (A557S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374842	NM_021964.3(ZNF148):c.1792A>T (p.Lys598Ter)	LOC126806798, ZNF148 (K598* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 2347601	NM_021964.3(ZNF148):c.1763G>A (p.Gly588Glu)	LOC126806798, ZNF148 (G546E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1274027	NM_021964.3(ZNF148):c.1749G>A (p.Pro583=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GBenign
Select item 2862206	NM_021964.3(ZNF148):c.1711A>G (p.Ile571Val)	LOC126806798, ZNF148 (I529V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636858	NM_021964.3(ZNF148):c.1699G>A (p.Val567Met)	LOC126806798, ZNF148 (V525M +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder	GUncertain significance
Select item 1028237	NM_021964.3(ZNF148):c.1667A>C (p.His556Pro)	LOC126806798, ZNF148 (H556P +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 796282	NM_021964.3(ZNF148):c.1644T>C (p.Tyr548=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443381	NM_021964.3(ZNF148):c.1628_1640del (p.Thr543fs)	LOC126806798, ZNF148 (T501fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 807527	NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)	LOC126806798, ZNF148 (L502fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability +1 more	GPathogenic
Select item 1308666	NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)	LOC126806798, ZNF148 (Q500* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 374843	NM_021964.3(ZNF148):c.1583dup (p.Ser529fs)	ZNF148, LOC126806798 (S487fs +1 more)	Duplication (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 374845	NM_021964.3(ZNF148):c.1581_1582insC (p.Lys528fs)	LOC126806798, ZNF148 (K528fs +1 more)	Insertion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic

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Items: 33