DIMT1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 149154	GRCh38/hg38 5q12.1(chr5:61610054-62739543)x3	DIMT1, IPO11 +16 more	Copy number gain	See cases	GUncertain significance
Select item 2380959	NM_014473.4(DIMT1):c.919G>A (p.Ala307Thr)	DIMT1, KIF2A (A307T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538204	NM_014473.4(DIMT1):c.824A>T (p.Lys275Ile)	DIMT1, KIF2A (K122I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082401	NM_014473.4(DIMT1):c.718G>C (p.Ala240Pro)	DIMT1 (A240P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243708	NM_014473.4(DIMT1):c.652A>C (p.Ile218Leu)	DIMT1 (I65L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346440	NM_014473.4(DIMT1):c.557A>G (p.Asp186Gly)	DIMT1 (D33G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400840	NM_014473.4(DIMT1):c.550C>T (p.Arg184Cys)	DIMT1 (R184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082399	NM_014473.4(DIMT1):c.462G>A (p.Met154Ile)	DIMT1 (M154I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272080	NM_014473.4(DIMT1):c.439T>A (p.Phe147Ile)	DIMT1 (F147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082398	NM_014473.4(DIMT1):c.428T>C (p.Leu143Pro)	DIMT1 (L143P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082397	NM_014473.4(DIMT1):c.303G>T (p.Thr101=)	DIMT1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3082396	NM_014473.4(DIMT1):c.178G>A (p.Val60Met)	DIMT1 (V60M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354503	NM_014473.4(DIMT1):c.176T>C (p.Val59Ala)	DIMT1 (V59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548013	NM_014473.4(DIMT1):c.101T>A (p.Ile34Asn)	DIMT1 (I34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407690	NM_014473.4(DIMT1):c.59G>A (p.Arg20Gln)	DIMT1 (R20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272079	NM_014473.4(DIMT1):c.56G>A (p.Arg19His)	DIMT1 (R19H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471232	NM_014473.4(DIMT1):c.26T>A (p.Ile9Asn)	DIMT1 (I9N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1706518	GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1	ZSWIM6, C5orf64 +12 more	Copy number loss	See cases	GPathogenic
Select item 814690	GRCh37/hg19 5q12.1(chr5:61432724-62050314)x3	IPO11, KIF2A +2 more	Copy number gain	not provided	GLikely benign
Select item 686520	GRCh37/hg19 5q12.1(chr5:61626684-61967808)x3	DIMT1, IPO11 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686050	GRCh37/hg19 5q12.1(chr5:61607717-61923080)x3	DIMT1, IPO11 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563072	GRCh37/hg19 5q12.1(chr5:61582193-62088651)x3	KIF2A, DIMT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442491	GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1	DEPDC1B, DIMT1 +12 more	Copy number loss	See cases	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 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 253877	GRCh37/hg19 5q12.1(chr5:61573104-62071310)x3	IPO11, KIF2A +2 more	Copy number gain	See cases	GUncertain significance

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Items: 33