ClinVar for Gene (Select 84311) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296034	NM_032351.6(MRPL45):c.277G>A (p.Gly93Ser)	MRPL45 (G93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296033	NM_032351.6(MRPL45):c.168T>G (p.Phe56Leu)	MRPL45 (F56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296032	NM_032351.6(MRPL45):c.359T>G (p.Val120Gly)	MRPL45 (V120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296031	NM_032351.6(MRPL45):c.814C>T (p.Pro272Ser)	MRPL45 (P222S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296030	NM_032351.6(MRPL45):c.451T>G (p.Cys151Gly)	MRPL45 (C151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208024	NM_032351.6(MRPL45):c.815C>G (p.Pro272Arg)	MRPL45 (P222R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207995	NM_032351.6(MRPL45):c.476G>A (p.Arg159Gln)	MRPL45 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207990	NM_032351.6(MRPL45):c.462C>A (p.Asn154Lys)	MRPL45 (N154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207987	NM_032351.6(MRPL45):c.445C>T (p.His149Tyr)	MRPL45 (H149Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207975	NM_032351.6(MRPL45):c.221G>A (p.Arg74His)	MRPL45 (R74H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207967	NM_032351.6(MRPL45):c.143C>T (p.Pro48Leu)	MRPL45 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597548	NM_032351.6(MRPL45):c.11C>G (p.Pro4Arg)	MRPL45 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597198	NM_032351.6(MRPL45):c.367C>T (p.Arg123Trp)	MRPL45 (R123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597092	NM_032351.6(MRPL45):c.824C>T (p.Pro275Leu)	MRPL45 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521537	NM_032351.6(MRPL45):c.679C>T (p.Arg227Trp)	MRPL45 (R227W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516591	NM_032351.6(MRPL45):c.644G>A (p.Arg215His)	MRPL45 (R215H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509264	NM_032351.6(MRPL45):c.643C>T (p.Arg215Cys)	MRPL45 (R215C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455564	NM_032351.6(MRPL45):c.634A>C (p.Ile212Leu)	MRPL45 (I212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412162	NM_032351.6(MRPL45):c.215C>T (p.Ser72Leu)	MRPL45 (S72L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399173	NM_032351.6(MRPL45):c.541G>A (p.Val181Ile)	MRPL45 (V181I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373431	NM_032351.6(MRPL45):c.95T>C (p.Ile32Thr)	MRPL45 (I32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361250	NM_032351.6(MRPL45):c.836C>T (p.Thr279Met)	MRPL45 (T229M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348353	NM_032351.6(MRPL45):c.850G>A (p.Gly284Ser)	MRPL45 (G284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329846	NM_032351.6(MRPL45):c.437T>C (p.Ile146Thr)	MRPL45 (I146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311563	NM_032351.6(MRPL45):c.553T>G (p.Phe185Val)	MRPL45 (F185V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311193	NM_032351.6(MRPL45):c.652A>G (p.Thr218Ala)	MRPL45 (T218A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276323	NM_032351.6(MRPL45):c.646A>T (p.Met216Leu)	MRPL45 (M216L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264843	NM_032351.6(MRPL45):c.397A>G (p.Lys133Glu)	MRPL45 (K133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261729	NM_032351.6(MRPL45):c.481C>T (p.His161Tyr)	MRPL45 (H161Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257466	NM_032351.6(MRPL45):c.509C>A (p.Pro170Gln)	MRPL45 (P170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252346	NM_032351.6(MRPL45):c.319G>A (p.Glu107Lys)	MRPL45 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249754	NM_032351.6(MRPL45):c.917C>T (p.Ala306Val)	MRPL45 (A306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248242	NM_032351.6(MRPL45):c.895G>A (p.Glu299Lys)	MRPL45 (E249K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205756	NM_032351.6(MRPL45):c.688C>T (p.Arg230Trp)	MRPL45 (R230W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973602	GRCh37/hg19 17q12(chr17:36473175-36567469)x3	ARHGAP23, GPR179 +4 more	Copy number gain	Microcephaly +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685895	GRCh37/hg19 17q12(chr17:36353952-36680186)x3	ARHGAP23, GPR179 +2 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394793	GRCh37/hg19 17q12(chr17:36474601-36498849)x3	GPR179, MRPL45	Copy number gain	See cases	GLikely benign
Select item 394677	GRCh37/hg19 17q12(chr17:36474601-36552916)x3	GPR179, MRPL45 +1 more	Copy number gain	See cases	GLikely benign
Select item 209211	NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del	CCL4L1, CCL4L2 +26 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44