HMGCLL1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic
Select item 2411943	NM_001042406.2(HMGCLL1):c.1010C>T (p.Ser337Phe)	HMGCLL1 (S238F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106271	NM_001042406.2(HMGCLL1):c.943A>T (p.Met315Leu)	HMGCLL1 (M212L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335707	NM_001042406.2(HMGCLL1):c.883G>A (p.Asp295Asn)	HMGCLL1 (D325N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356435	NM_001042406.2(HMGCLL1):c.880G>A (p.Glu294Lys)	HMGCLL1 (E191K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389868	NM_001042406.2(HMGCLL1):c.853A>G (p.Lys285Glu)	HMGCLL1 (K186E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246204	NM_001042406.2(HMGCLL1):c.811G>A (p.Val271Met)	HMGCLL1 (V301M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541365	NM_001042406.2(HMGCLL1):c.785C>T (p.Thr262Met)	HMGCLL1 (T163M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541354	NM_001042406.2(HMGCLL1):c.784A>T (p.Thr262Ser)	HMGCLL1 (T159S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327782	NM_001042406.2(HMGCLL1):c.722C>A (p.Pro241Gln)	HMGCLL1 (P138Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106276	NM_001042406.2(HMGCLL1):c.676C>G (p.Pro226Ala)	HMGCLL1 (P123A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230265	NM_001042406.2(HMGCLL1):c.661A>G (p.Ile221Val)	HMGCLL1 (I221V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106275	NM_001042406.2(HMGCLL1):c.652G>A (p.Gly218Arg)	HMGCLL1 (G115R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401414	NM_001042406.2(HMGCLL1):c.618A>T (p.Arg206Ser)	HMGCLL1 (R107S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485561	NM_001042406.2(HMGCLL1):c.518G>A (p.Arg173Lys)	HMGCLL1 (R173K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531842	NM_001042406.2(HMGCLL1):c.514G>A (p.Ala172Thr)	HMGCLL1 (A202T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558998	NM_001042406.2(HMGCLL1):c.456G>T (p.Lys152Asn)	HMGCLL1 (K120N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526621	NM_001042406.2(HMGCLL1):c.440A>C (p.Glu147Ala)	HMGCLL1 (E147A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360692	NM_001042406.2(HMGCLL1):c.400G>C (p.Ala134Pro)	HMGCLL1 (A35P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462709	NM_001042406.2(HMGCLL1):c.349C>T (p.Arg117Cys)	HMGCLL1 (R147C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106274	NM_001042406.2(HMGCLL1):c.284G>C (p.Arg95Thr)	HMGCLL1 (R125T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514483	NM_001042406.2(HMGCLL1):c.284G>T (p.Arg95Ile)	HMGCLL1 (R125I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106273	NM_001042406.2(HMGCLL1):c.278C>T (p.Ser93Phe)	HMGCLL1 (S123F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297325	NM_001042406.2(HMGCLL1):c.265A>T (p.Thr89Ser)	HMGCLL1 (T119S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516185	NM_001042406.2(HMGCLL1):c.259G>C (p.Glu87Gln)	HMGCLL1 (E117Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509792	NM_001042406.2(HMGCLL1):c.166A>T (p.Arg56Trp)	HMGCLL1 (R56W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106272	NM_001042406.2(HMGCLL1):c.163C>G (p.Pro55Ala)	HMGCLL1 (P85A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808262	GRCh37/hg19 6p12.1(chr6:54926500-55647880)x3	BMP5, GFRAL +2 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340308	GRCh37/hg19 6p12.1(chr6:55328665-55378845)x1	HMGCLL1	Copy number loss	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979545	GRCh37/hg19 6p12.1(chr6:55310852-55396953)x1	HMGCLL1	Copy number loss	not provided	GUncertain significance
Select item 688026	GRCh37/hg19 6p12.1(chr6:55388285-55506553)x1	HMGCLL1	Copy number loss	not provided	GUncertain significance
Select item 686721	GRCh37/hg19 6p12.1(chr6:55053759-55499082)x1	GFRAL, HCRTR2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	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 442770	GRCh37/hg19 6p12.1(chr6:54730810-56217129)x1	BMP5, COL21A1 +4 more	Copy number loss	See cases	GLikely benign

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Items: 42