TMEM276-ZFTRAF1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2446709	NM_001330618.2(ZFTRAF1):c.1162_1163del (p.Leu388fs)	TMEM276-ZFTRAF1, ZFTRAF1 (L258fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GLikely pathogenic
Select item 2446444	NM_001330618.2(ZFTRAF1):c.1085_1086del (p.Phe362fs)	TMEM276-ZFTRAF1, ZFTRAF1 (F232fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic
Select item 2468782	NM_001330618.2(ZFTRAF1):c.754C>T (p.His252Tyr)	TMEM276-ZFTRAF1, ZFTRAF1 (H159Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446443	NM_001330618.2(ZFTRAF1):c.612-2A>C	TMEM276-ZFTRAF1, ZFTRAF1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic
Select item 2466815	NM_001330618.2(ZFTRAF1):c.556C>T (p.Arg186Cys)	TMEM276-ZFTRAF1, ZFTRAF1 (R186C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334575	NM_001330618.2(ZFTRAF1):c.411C>G (p.Ile137Met)	TMEM276-ZFTRAF1, ZFTRAF1 (I44M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537082	NM_001330618.2(ZFTRAF1):c.407T>C (p.Phe136Ser)	TMEM276-ZFTRAF1, ZFTRAF1 (F6S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599376	NC_000008.11:g.144464447G>T	ZFTRAF1, TMEM276 +1 more (R87S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive non-syndromic intellectual disability	GUncertain significance
Select item 2601814	NM_138496.3(TMEM276-ZFTRAF1):c.220C>T (p.Pro74Ser)	TMEM276, TMEM276-ZFTRAF1 +1 more (P74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193345	NM_138496.3(TMEM276-ZFTRAF1):c.217C>T (p.Leu73Phe)	TMEM276, TMEM276-ZFTRAF1 +1 more (L73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193350	NM_138496.3(TMEM276-ZFTRAF1):c.97A>T (p.Ser33Cys)	TMEM276, TMEM276-ZFTRAF1 +1 more (S33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193349	NM_138496.3(TMEM276-ZFTRAF1):c.88G>A (p.Ala30Thr)	TMEM276, TMEM276-ZFTRAF1 +1 more (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193348	NM_138496.3(TMEM276-ZFTRAF1):c.79G>A (p.Val27Met)	TMEM276, TMEM276-ZFTRAF1 +1 more (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193347	NM_138496.3(TMEM276-ZFTRAF1):c.65C>G (p.Ser22Cys)	TMEM276, TMEM276-ZFTRAF1 +1 more (S22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193346	NM_138496.3(TMEM276-ZFTRAF1):c.46C>G (p.Leu16Val)	TMEM276, TMEM276-ZFTRAF1 +1 more (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 42