6946[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59069	GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1	C21orf58, COL6A1 +52 more	Copy number loss	See cases	GPathogenic
Select item 148754	GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3	C21orf58, COL6A1 +44 more	Copy number gain	See cases	GLikely benign
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 57251	GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1	C21orf58, DIP2A +34 more	Copy number loss	See cases	GUncertain significance
Select item 1228038	NC_000021.9:g.46235113A>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant	not provided	GBenign
Select item 1484212	NM_003906.5(MCM3AP):c.5928C>T (p.Asp1976=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396191	NM_003906.5(MCM3AP):c.5926G>A (p.Asp1976Asn)	MCM3AP, MCM3AP-AS1 (D1976N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916836	NM_003906.5(MCM3AP):c.5919G>A (p.Ala1973=)	MCM3AP-AS1, MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919641	NM_003906.5(MCM3AP):c.5918C>T (p.Ala1973Val)	MCM3AP, MCM3AP-AS1 (A1973V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016667	NM_003906.5(MCM3AP):c.5917G>C (p.Ala1973Pro)	MCM3AP, MCM3AP-AS1 (A1973P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350190	NM_003906.5(MCM3AP):c.5903A>G (p.Glu1968Gly)	MCM3AP, MCM3AP-AS1 (E1968G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997301	NM_003906.5(MCM3AP):c.5879C>G (p.Ser1960Ter)	MCM3AP, MCM3AP-AS1 (S1960*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2393393	NM_003906.5(MCM3AP):c.5875A>G (p.Ser1959Gly)	MCM3AP, MCM3AP-AS1 (S1959G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396938	NM_003906.5(MCM3AP):c.5873G>A (p.Arg1958Gln)	MCM3AP, MCM3AP-AS1 (R1958Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937804	NM_003906.5(MCM3AP):c.5872C>T (p.Arg1958Trp)	MCM3AP, MCM3AP-AS1 (R1958W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2086796	NM_003906.5(MCM3AP):c.5862A>G (p.Glu1954=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712142	NM_003906.5(MCM3AP):c.5850A>C (p.Leu1950=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898030	NM_003906.5(MCM3AP):c.5848C>G (p.Leu1950Val)	MCM3AP, MCM3AP-AS1 (L1950V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023415	NM_003906.5(MCM3AP):c.5846G>C (p.Arg1949Pro)	MCM3AP, MCM3AP-AS1 (R1949P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903425	NM_003906.5(MCM3AP):c.5845C>T (p.Arg1949Ter)	MCM3AP, MCM3AP-AS1 (R1949*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2831734	NM_003906.5(MCM3AP):c.5836C>T (p.Leu1946=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915122	NM_003906.5(MCM3AP):c.5832G>A (p.Thr1944=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670443	NM_003906.5(MCM3AP):c.5832G>C (p.Thr1944=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413971	NM_003906.5(MCM3AP):c.5831C>T (p.Thr1944Met)	MCM3AP, MCM3AP-AS1 (T1944M)	Single nucleotide variant (missense variant)	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more	GUncertain significance
Select item 1993656	NM_003906.5(MCM3AP):c.5830A>C (p.Thr1944Pro)	MCM3AP, MCM3AP-AS1 (T1944P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920261	NM_003906.5(MCM3AP):c.5830A>G (p.Thr1944Ala)	MCM3AP, MCM3AP-AS1 (T1944A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345230	NM_003906.5(MCM3AP):c.5828G>A (p.Gly1943Glu)	MCM3AP, MCM3AP-AS1 (G1943E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989621	NM_003906.5(MCM3AP):c.5827G>C (p.Gly1943Arg)	MCM3AP, MCM3AP-AS1 (G1943R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990607	NM_003906.5(MCM3AP):c.5825C>A (p.Thr1942Lys)	MCM3AP, MCM3AP-AS1 (T1942K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601135	NM_003906.5(MCM3AP):c.5823G>C (p.Ala1941=)	MCM3AP-AS1, MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1555119	NM_003906.5(MCM3AP):c.5823G>A (p.Ala1941=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641791	NM_003906.5(MCM3AP):c.5820G>A (p.Glu1940=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600178	NM_003906.5(MCM3AP):c.5817A>G (p.Ser1939=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1361510	NM_003906.5(MCM3AP):c.5813T>C (p.Leu1938Pro)	MCM3AP, MCM3AP-AS1 (L1938P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633872	NM_003906.5(MCM3AP):c.5812C>T (p.Leu1938=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2962900	NM_003906.5(MCM3AP):c.5806C>T (p.Leu1936=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998555	NM_003906.5(MCM3AP):c.5797_5799del (p.Arg1933del)	MCM3AP, MCM3AP-AS1 (R1933del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1920379	NM_003906.5(MCM3AP):c.5798G>A (p.Arg1933Lys)	MCM3AP, MCM3AP-AS1 (R1933K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933668	NM_003906.5(MCM3AP):c.5785-2dup	MCM3AP, MCM3AP-AS1	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 2300038	NM_003906.5(MCM3AP):c.5785-3T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1546078	NM_003906.5(MCM3AP):c.5785-6A>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076450	NM_003906.5(MCM3AP):c.5785-9T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014050	NM_003906.5(MCM3AP):c.5785-10A>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700199	NM_003906.5(MCM3AP):c.5785-13T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239260	NM_003906.5(MCM3AP):c.5785-201C>G	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289567	NM_003906.5(MCM3AP):c.5784+79G>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243994	NM_003906.5(MCM3AP):c.5784+31A>G	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1905002	NM_003906.5(MCM3AP):c.5784+12G>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900395	NM_003906.5(MCM3AP):c.5784+11C>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281666	NM_003906.5(MCM3AP):c.5784+11C>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2546962	NM_003906.5(MCM3AP):c.5777G>T (p.Ser1926Ile)	MCM3AP, MCM3AP-AS1 (S1926I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1349083	NM_003906.5(MCM3AP):c.5776A>G (p.Ser1926Gly)	MCM3AP, MCM3AP-AS1 (S1926G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2132812	NM_003906.5(MCM3AP):c.5770A>G (p.Thr1924Ala)	MCM3AP, MCM3AP-AS1 (T1924A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423176	NM_003906.5(MCM3AP):c.5767_5768del (p.Val1923fs)	MCM3AP, MCM3AP-AS1 (V1923fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1347819	NM_003906.5(MCM3AP):c.5765C>T (p.Ser1922Phe)	MCM3AP-AS1, MCM3AP (S1922F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000202	NM_003906.5(MCM3AP):c.5763A>T (p.Thr1921=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015530	NM_003906.5(MCM3AP):c.5762dup (p.Ser1922fs)	MCM3AP, MCM3AP-AS1 (S1922fs)	Duplication (frameshift variant)	not provided	GUncertain significance

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