10385[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 59545	GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3	LINC00326, LOC123864071 +34 more	Copy number gain	See cases	GUncertain significance
Select item 3156181	NM_001016.4(RPS12):c.38A>G (p.Asp13Gly)	LOC129997182, RPS12 (D13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345854	NM_001016.4(RPS12):c.40G>A (p.Val14Ile)	LOC129997182, RPS12 (V14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395142	NM_001016.4(RPS12):c.71C>T (p.Thr24Ile)	LOC129997182, RPS12 (T24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207219	NM_001016.4(RPS12):c.302G>A (p.Arg101His)	RPS12 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483722	NM_001016.4(RPS12):c.394A>C (p.Lys132Gln)	RPS12 (K132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062914	GRCh37/hg19 6q23.2(chr6:132926526-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684456	GRCh37/hg19 6q23.2(chr6:132926527-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1340562	GRCh37/hg19 6q23.2(chr6:132875123-133509642)x3	RPS12, SLC18B1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688723	GRCh37/hg19 6q23.2(chr6:132926920-133314722)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 22