TTC4[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 2285989	NM_004623.5(TTC4):c.19G>A (p.Asp7Asn)	MROH7-TTC4, TTC4 (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296736	NM_004623.5(TTC4):c.88T>A (p.Phe30Ile)	MROH7-TTC4, TTC4 (F30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619555	NM_004623.5(TTC4):c.103T>C (p.Trp35Arg)	MROH7-TTC4, TTC4 (W35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184365	NM_004623.5(TTC4):c.233A>G (p.Gln78Arg)	MROH7-TTC4, TTC4 (Q78R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3184366	NM_004623.5(TTC4):c.335A>G (p.Asp112Gly)	MROH7-TTC4, TTC4 (D112G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3184367	NM_004623.5(TTC4):c.377C>T (p.Ala126Val)	MROH7-TTC4, TTC4 (A126V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254226	NM_004623.5(TTC4):c.683C>T (p.Ala228Val)	MROH7-TTC4, TTC4 (A228V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2526267	NM_004623.5(TTC4):c.686G>C (p.Arg229Thr)	MROH7-TTC4, TTC4 (R229T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2542980	NM_004623.5(TTC4):c.779A>T (p.Asn260Ile)	MROH7-TTC4, TTC4 (N260I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3184368	NM_004623.5(TTC4):c.786T>A (p.His262Gln)	MROH7-TTC4, TTC4 (H262Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3184369	NM_004623.5(TTC4):c.817A>G (p.Arg273Gly)	MROH7-TTC4, TTC4 (R273G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2460783	NM_004623.5(TTC4):c.863C>T (p.Ser288Leu)	MROH7-TTC4, TTC4 (S288L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 587543	NM_004623.5(TTC4):c.944A>G (p.Asp315Gly)	MROH7-TTC4, TTC4 (D315G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2543303	NM_004623.5(TTC4):c.979G>C (p.Val327Leu)	MROH7-TTC4, TTC4 (V228L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3184364	NM_004623.5(TTC4):c.1102G>A (p.Val368Ile)	MROH7-TTC4, TTC4 (V368I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 980375	GRCh37/hg19 1p32.3(chr1:55090187-55313988)x3	TTC4, LEXM +4 more	Copy number gain	not provided	GLikely benign
Select item 979902	GRCh37/hg19 1p32.3(chr1:55036105-55274639)x3	ACOT11, TTC4 +5 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565100	GRCh37/hg19 1p32.3(chr1:55038842-55347867)x3	MROH7, ACOT11 +6 more	Copy number gain	not provided	GLikely benign
Select item 565099	GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3	ACOT11, BSND +10 more	Copy number gain	not provided	GUncertain significance
Select item 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 32